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Wyszukujesz frazę ""IRON metabolism"" wg kryterium: Temat


Tytuł :
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
Autorzy :
Tarnacka B; Department of Rehabilitation Medicine, Faculty of Medicine, Warsaw Medical University, Spartańska 1, 02-637 Warsaw, Poland.
Jopowicz A; Department of Rehabilitation, Eleonora Reicher National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland.
Maślińska M; Department of Early Arthritis, Eleonora Reicher National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 22; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 22.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Ceruloplasmin/*deficiency
Copper/*adverse effects
Iron/*adverse effects
Iron Metabolism Disorders/*pathology
Manganese/*adverse effects
Metabolic Diseases/*pathology
Neuroaxonal Dystrophies/*pathology
Neurodegenerative Diseases/*pathology
Humans ; Iron Metabolism Disorders/chemically induced ; Iron Metabolism Disorders/etiology ; Manganese Poisoning/complications ; Metabolic Diseases/chemically induced ; Metalloproteins/metabolism ; Neuroaxonal Dystrophies/chemically induced ; Neurodegenerative Diseases/etiology ; Oxidative Stress
SCR Disease Name :
Familial apoceruloplasmin deficiency; Hypermanganesemia with Dystonia Polycythemia and Cirrhosis; Neuroferritinopathy
Czasopismo naukowe
Tytuł :
[Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation].
Autorzy :
Wang XS; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.
Jiang L; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.
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Źródło :
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2021 Jun; Vol. 23 (6), pp. 650-656.
Typ publikacji :
Journal Article
MeSH Terms :
Basal Ganglia Diseases*
Iron Metabolism Disorders*/genetics
Iron Metabolism Disorders*/therapy
Basal Ganglia ; Brain ; Humans ; Iron
Czasopismo naukowe
Tytuł :
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Autorzy :
Celma Nos F; Iron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.
Hernández G; Iron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.
Ferrer-Cortès X; Iron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Hernandez-Rodriguez I; Hematology Service, University Hospital Germans Trias i Pujol (HGTiP), Institut Català d'Oncología (ICO), 08916 Badalona, Spain.
Navarro-Almenzar B; Hematology and Hemotherapy Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain.
Fuster JL; Pediatric OncoHematology Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain.
Bermúdez Cortés M; Pediatric OncoHematology Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain.
Pérez-Montero S; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Tornador C; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Sanchez M; Iron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 May 21; Vol. 22 (11). Date of Electronic Publication: 2021 May 21.
Typ publikacji :
Case Reports
MeSH Terms :
Cataract/*congenital
Ferritins/*genetics
Iron Metabolism Disorders/*congenital
Adult ; Cataract/genetics ; Child ; Female ; Humans ; Iron/metabolism ; Iron Metabolism Disorders/genetics ; Iron-Regulatory Proteins/genetics ; Mutation/genetics
SCR Disease Name :
Hyperferritinemia, hereditary, with congenital cataracts
Raport
Tytuł :
Abnormal iron status is associated with an increased risk of mortality in patients on peritoneal dialysis.
Autorzy :
Luo D; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Zhong Z; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Qiu Y; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Wang Y; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Li H; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Lin J; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Chen W; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Yang X; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China.
Mao H; Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China; Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China. Electronic address: .
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Źródło :
Nutrition, metabolism, and cardiovascular diseases : NMCD [Nutr Metab Cardiovasc Dis] 2021 Apr 09; Vol. 31 (4), pp. 1148-1155. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Comparative Study; Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Iron/*blood
Iron Metabolism Disorders/*blood
Kidney Diseases/*therapy
Peritoneal Dialysis/*mortality
Adult ; Biomarkers/blood ; China/epidemiology ; Female ; Ferritins/blood ; Humans ; Iron/deficiency ; Iron Metabolism Disorders/diagnosis ; Iron Metabolism Disorders/mortality ; Kidney Diseases/blood ; Kidney Diseases/diagnosis ; Kidney Diseases/mortality ; Male ; Middle Aged ; Peritoneal Dialysis/adverse effects ; Prevalence ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Time Factors ; Transferrin/metabolism ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Pathogenic mechanism and modeling of neuroferritinopathy.
Autorzy :
Cozzi A; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132, Milan, Italy.
Santambrogio P; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132, Milan, Italy.
Ripamonti M; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132, Milan, Italy.
Rovida E; Institute for Genetic and Biomedical Research, National Research Council, 20138, Milan, Italy.
Levi S; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132, Milan, Italy. .; Vita-Salute San Raffaele University and San Raffaele Scientific Institute, Via Olgettina 58, 20132, Milan, Italy. .
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Źródło :
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2021 Apr; Vol. 78 (7), pp. 3355-3367. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Apoferritins/*metabolism
Iron/*metabolism
Iron Metabolism Disorders/*pathology
Neuroaxonal Dystrophies/*pathology
Animals ; Humans ; Iron Metabolism Disorders/metabolism ; Neuroaxonal Dystrophies/metabolism
SCR Disease Name :
Neuroferritinopathy
Czasopismo naukowe
Tytuł :
Heme Oxygenase-1 Deficiency.
Autorzy :
Renji S; Department of Pediatrics, PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India. .
Shah N; Department of Pediatrics, PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India.
Madkaikar M; ICMR- National Institute of Immunohematology; Mumbai, Maharashtra, India.
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Źródło :
Indian pediatrics [Indian Pediatr] 2021 Mar 15; Vol. 58 (3), pp. 290-291.
Typ publikacji :
Letter
MeSH Terms :
Anemia, Hemolytic*
Iron Metabolism Disorders*
Growth Disorders ; Heme Oxygenase-1/genetics ; Humans
Opinia redakcyjna
Tytuł :
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy.
Autorzy :
Turner S; Children's Hospital of Michigan, Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Detroit, MI, USA.
Dress C; Children's Hospital of Michigan, Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Detroit, MI, USA.
Misra VK; Children's Hospital of Michigan, Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Detroit, MI, USA. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Mar; Vol. 64 (3), pp. 104159. Date of Electronic Publication: 2021 Feb 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Phenotype*
Apoferritins/*genetics
Iron/*deficiency
Iron Metabolism Disorders/*genetics
Neuroaxonal Dystrophies/*genetics
Adult ; Asymptomatic Diseases ; Child, Preschool ; Female ; Gene Deletion ; Haploinsufficiency ; Humans ; Infant ; Iron Metabolism Disorders/diagnosis ; Male ; Middle Aged ; Mutation ; Neuroaxonal Dystrophies/diagnosis ; Pedigree
SCR Disease Name :
Neuroferritinopathy
Czasopismo naukowe
Tytuł :
Seizures in Hereditary Aceruloplasminemia.
Autorzy :
Marano M; Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Campus Bio-Medico of Rome University, Rome, Italy.
Bove F; U.O.C. Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Ricci L; Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Campus Bio-Medico of Rome University, Rome, Italy.
Rohani M; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Di Lazzaro V; Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Campus Bio-Medico of Rome University, Rome, Italy.
Assenza G; Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Campus Bio-Medico of Rome University, Rome, Italy.
Fasano A; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.; Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, UHN, Toronto, Ontario, Canada.; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario,Canada.; Krembil Brain Institute, Toronto, Ontario, Canada.; Center for Advancing Neurotechnological Innovation to Application (CRANIA), Toronto, Ontario, Canada.
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Źródło :
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2021 Jan; Vol. 48 (1), pp. 144-147. Date of Electronic Publication: 2020 Aug 03.
Typ publikacji :
Letter
MeSH Terms :
Iron Metabolism Disorders*/complications
Iron Metabolism Disorders*/genetics
Neurodegenerative Diseases*/complications
Neurodegenerative Diseases*/genetics
Brain/diagnostic imaging ; Brain/metabolism ; Ceruloplasmin/deficiency ; Ceruloplasmin/genetics ; Ceruloplasmin/metabolism ; Humans ; Seizures/genetics
SCR Disease Name :
Familial apoceruloplasmin deficiency
Opinia redakcyjna
Tytuł :
Case 35-2020: A 59-Year-Old Woman with Type 1 Diabetes Mellitus and Obtundation.
Autorzy :
Caplan DN; From the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Massachusetts General Hospital, and the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Harvard Medical School - both in Boston.
Rapalino O; From the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Massachusetts General Hospital, and the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Harvard Medical School - both in Boston.
Karaa A; From the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Massachusetts General Hospital, and the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Harvard Medical School - both in Boston.
Rosovsky RP; From the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Massachusetts General Hospital, and the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Harvard Medical School - both in Boston.
Uljon S; From the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Massachusetts General Hospital, and the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Harvard Medical School - both in Boston.
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Źródło :
The New England journal of medicine [N Engl J Med] 2020 Nov 12; Vol. 383 (20), pp. 1974-1983.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Ceruloplasmin/*analysis
Ceruloplasmin/*deficiency
Diabetes Mellitus, Type 1/*complications
Iron Metabolism Disorders/*diagnosis
Neurodegenerative Diseases/*diagnosis
Brain/diagnostic imaging ; Brain/pathology ; Chelation Therapy ; Cognitive Dysfunction/etiology ; Diagnosis, Differential ; Female ; Ferritins/blood ; Humans ; Iron Metabolism Disorders/complications ; Iron Metabolism Disorders/therapy ; Magnetic Resonance Imaging ; Middle Aged ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/therapy ; Unconsciousness/etiology
SCR Disease Name :
Familial apoceruloplasmin deficiency
Czasopismo naukowe
Tytuł :
Hyperferritinaemia-cataract syndrome.
Autorzy :
Benneche A
Sandnes M
Bakke Å
Reikvam H
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Transliterated Title :
Hyperferritinemi-katarakt-syndrom.
Źródło :
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 2020 Nov 09; Vol. 140 (16). Date of Electronic Publication: 2020 Nov 09 (Print Publication: 2020).
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cataract*/diagnosis
Cataract*/genetics
Iron Metabolism Disorders*/diagnosis
Iron Metabolism Disorders*/genetics
Ferritins ; Genetic Testing ; Humans ; Male ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
[Aceruloplasminemia, a rare condition not to be overlooked].
Autorzy :
Lobbes H; Service de médecine interne, hôpital Estaing, CHU de Clermont-Ferrand, 1, place Lucie-et-Raymond-Aubrac, 63000 Clermont-Ferrand, France.; Service de médecine interne et vasculaire, Centre de compétence des surcharges en fer rares d'origine génétique, hôpital Lyon Sud, Hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France.. Electronic address: .
Reynaud Q; Service de médecine interne et vasculaire, Centre de compétence des surcharges en fer rares d'origine génétique, hôpital Lyon Sud, Hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France.
Mainbourg S; Service de médecine interne et vasculaire, Centre de compétence des surcharges en fer rares d'origine génétique, hôpital Lyon Sud, Hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France.
Lega JC; Service de médecine interne et vasculaire, Centre de compétence des surcharges en fer rares d'origine génétique, hôpital Lyon Sud, Hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France.
Durieu I; Service de médecine interne et vasculaire, Centre de compétence des surcharges en fer rares d'origine génétique, hôpital Lyon Sud, Hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France.
Durupt S; Service de médecine interne et vasculaire, Centre de compétence des surcharges en fer rares d'origine génétique, hôpital Lyon Sud, Hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France.
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Transliterated Title :
L'acéruléoplasminémie héréditaire, une pathologie à ne pas méconnaître.
Źródło :
La Revue de medecine interne [Rev Med Interne] 2020 Nov; Vol. 41 (11), pp. 769-775. Date of Electronic Publication: 2020 Jul 16.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Ceruloplasmin/*deficiency
Iron Metabolism Disorders/*diagnosis
Neurodegenerative Diseases/*diagnosis
Ceruloplasmin/genetics ; Ceruloplasmin/metabolism ; Diagnosis, Differential ; Humans ; Iron/metabolism ; Iron Metabolism Disorders/complications ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/therapy ; Iron Overload/complications ; Iron Overload/diagnosis ; Iron Overload/pathology ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/therapy ; Parkinsonian Disorders/diagnosis ; Parkinsonian Disorders/etiology ; Parkinsonian Disorders/metabolism ; Rare Diseases
SCR Disease Name :
Familial apoceruloplasmin deficiency
Czasopismo naukowe
Tytuł :
Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Autorzy :
Skowronska M; 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: .
Buksinska-Lisik M; 3rd Department of Internal Medicine and Cardiology, Warsaw Medical University, Warsaw, Poland.
Kmiec T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
Litwin T; 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Kurkowska-Jastrzębska I; 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Czlonkowska A; 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
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Źródło :
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2020 Nov; Vol. 80, pp. 15-18. Date of Electronic Publication: 2020 Sep 08.
Typ publikacji :
Journal Article
MeSH Terms :
Heart Diseases/*etiology
Iron Metabolism Disorders/*complications
Mitochondrial Diseases/*complications
Mitochondrial Proteins/*genetics
Neuroaxonal Dystrophies/*complications
Neurodegenerative Diseases/*complications
Adolescent ; Adult ; Electrocardiography ; Female ; Heart Diseases/diagnosis ; Humans ; Iron Metabolism Disorders/diagnosis ; Iron Metabolism Disorders/genetics ; Male ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Neuroaxonal Dystrophies/diagnosis ; Neuroaxonal Dystrophies/genetics ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics ; Young Adult
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Tytuł :
Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration.
Autorzy :
Vroegindeweij LHP; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Porphyria Center Rotterdam, Erasmus University Medical Center, Erasmus MC, Rotterdam, the Netherlands.
Bossoni L; C. J. Gorter Center for High Field MRI, Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: .
Boon AJW; Department of Neurology, Erasmus University Medical Center, Erasmus MC, Rotterdam, the Netherlands.
Wilson JHP; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Porphyria Center Rotterdam, Erasmus University Medical Center, Erasmus MC, Rotterdam, the Netherlands.
Bulk M; C. J. Gorter Center for High Field MRI, Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
Labra-Muñoz J; Department of Physics, Huygens-Kamerlingh Onnes Laboratory, Leiden University, Niels Bohrweg 2, 2333CA Leiden, the Netherlands; Kavli Institute of Nanoscience, Delft University of Technology, Lorentzweg 1, 2628 CJ Delft, the Netherlands.
Huber M; Department of Physics, Huygens-Kamerlingh Onnes Laboratory, Leiden University, Niels Bohrweg 2, 2333CA Leiden, the Netherlands.
Webb A; C. J. Gorter Center for High Field MRI, Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
van der Weerd L; C. J. Gorter Center for High Field MRI, Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Porphyria Center Rotterdam, Erasmus University Medical Center, Erasmus MC, Rotterdam, the Netherlands.
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Źródło :
NeuroImage. Clinical [Neuroimage Clin] 2021; Vol. 30, pp. 102657. Date of Electronic Publication: 2021 Apr 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Iron Metabolism Disorders*/diagnostic imaging
Neurodegenerative Diseases*/diagnostic imaging
Brain/diagnostic imaging ; Ceruloplasmin/deficiency ; Humans ; Iron ; Magnetic Resonance Imaging
SCR Disease Name :
Familial apoceruloplasmin deficiency
Czasopismo naukowe
Tytuł :
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
Autorzy :
Chau AS; Division of Allergy & Infectious Disease, Department of Medicine, University of Washington, Seattle, Washington, USA.; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Jack MacDonald Building - 6th floor, 1900 9th Avenue, Seattle, Washington, 98101, USA.
Cole BL; Department of Pathology and Laboratory Medicine, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
Debley JS; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Jack MacDonald Building - 6th floor, 1900 9th Avenue, Seattle, Washington, 98101, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Nanda K; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Rosen ABI; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Jack MacDonald Building - 6th floor, 1900 9th Avenue, Seattle, Washington, 98101, USA.
Bamshad MJ; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Genome Sciences, University of Washington, Seattle, Washington, USA.
Nickerson DA; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Genome Sciences, University of Washington, Seattle, Washington, USA.
Torgerson TR; Experimental Immunology, Allen Institute, Seattle, Washington, USA.
Allenspach EJ; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Jack MacDonald Building - 6th floor, 1900 9th Avenue, Seattle, Washington, 98101, USA. .; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. .; Department of Pediatrics, University of Washington, Seattle, Washington, USA. .
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Źródło :
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2020 Oct 16; Vol. 18 (1), pp. 80. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Hemolytic*/diagnosis
Anemia, Hemolytic*/genetics
Anemia, Hemolytic, Congenital*/blood
Anemia, Hemolytic, Congenital*/diagnosis
Anemia, Hemolytic, Congenital*/physiopathology
Anemia, Hemolytic, Congenital*/therapy
Growth Disorders*/diagnosis
Growth Disorders*/genetics
Iron Metabolism Disorders*/diagnosis
Iron Metabolism Disorders*/genetics
Respiratory Insufficiency*/diagnosis
Respiratory Insufficiency*/etiology
Spleen*/diagnostic imaging
Spleen*/pathology
Heme Oxygenase-1/*deficiency
Hepatomegaly/*diagnostic imaging
Bilirubin/blood ; Bone Marrow Examination/methods ; Child ; Clinical Deterioration ; Critical Care/methods ; Diagnosis ; Fatal Outcome ; Heme Oxygenase-1/genetics ; Humans ; Lung Diseases, Interstitial/diagnostic imaging ; Lung Diseases, Interstitial/etiology ; Lung Diseases, Interstitial/pathology ; Lung Diseases, Interstitial/physiopathology ; Macrophage Activation ; Male ; Nephritis/diagnosis ; Nephritis/etiology
SCR Disease Name :
Heme Oxygenase 1 Deficiency
Czasopismo naukowe
Tytuł :
Iron deficiency in pregnancy.
Autorzy :
Georgieff MK; Division of Neonatology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN. Electronic address: .
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Źródło :
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2020 Oct; Vol. 223 (4), pp. 516-524. Date of Electronic Publication: 2020 Mar 14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Fetal Development/*physiology
Iron/*deficiency
Iron Metabolism Disorders/*drug therapy
Pregnancy Complications/*drug therapy
Trace Elements/*therapeutic use
Brain/embryology ; Brain/growth & development ; Brain/metabolism ; Female ; Humans ; Iron/metabolism ; Iron/physiology ; Iron/therapeutic use ; Iron Metabolism Disorders/epidemiology ; Iron Metabolism Disorders/metabolism ; Iron Metabolism Disorders/physiopathology ; Mental Disorders/epidemiology ; Neurodevelopmental Disorders/epidemiology ; Pregnancy ; Pregnancy Complications/epidemiology ; Pregnancy Complications/metabolism ; Pregnancy Complications/physiopathology ; Prenatal Exposure Delayed Effects/epidemiology
Czasopismo naukowe
Tytuł :
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Autorzy :
Belohlavkova A; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Sterbova K; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Betzler C; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University Salzburg, Austria.
Burkhard S; Children's Hospital Amsterdamer Straße, Kliniken der Stadt Köln, Cologne, Germany.
Panzer A; Epilepsy Center, Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany.
Wolff M; Department of Neuropediatrics, University Children's Hospital, Tübingen, Germany.
Lassuthova P; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Vlckova M; Department of Biology and Medical Genetics, Charles University, Second Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic.
Kyncl M; Department of Radiology, Charles University, Second Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic.
Benova B; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Jahodova A; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Kudr M; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Goerg M; Department of Neuropaediatrics, Centrum for Social Paediatry, St. Mary´s Children Hospital, Landshut, Germany.
Dusek P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
Seeman P; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic.
Kluger G; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University Salzburg, Austria.
Krsek P; Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2020 Sep; Vol. 28, pp. 81-88. Date of Electronic Publication: 2020 Aug 04.
Typ publikacji :
Journal Article
MeSH Terms :
Carrier Proteins/*genetics
Iron/*blood
Iron Metabolism Disorders/*genetics
Iron Metabolism Disorders/*metabolism
Neurodegenerative Diseases/*genetics
Neurodegenerative Diseases/*metabolism
Biomarkers/blood ; Child ; Epilepsy/blood ; Epilepsy/genetics ; Epilepsy/metabolism ; Female ; Humans ; Intellectual Disability/blood ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Iron Metabolism Disorders/blood ; Male ; Movement Disorders/blood ; Movement Disorders/genetics ; Movement Disorders/metabolism ; Neurodegenerative Diseases/blood ; Phenotype
Czasopismo naukowe
Tytuł :
A compound heterozygous ALPL variant in a patient with dystonia-parkinsonism and hypointensity in basal ganglia: A case report.
Autorzy :
Li XY; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
Wan XH; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
Chen L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
Guo WH; Department of Vasculocardiology, Fuwai Hospital, Chinese Academy of Medical Sciences, 100037, China.
Wang L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China. Electronic address: .
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Źródło :
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2020 Sep; Vol. 78, pp. 184-185. Date of Electronic Publication: 2020 Aug 12.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Dystonic Disorders*/diagnosis
Dystonic Disorders*/genetics
Dystonic Disorders*/pathology
Dystonic Disorders*/physiopathology
Hypophosphatasia*/diagnosis
Hypophosphatasia*/genetics
Iron Metabolism Disorders*/diagnosis
Iron Metabolism Disorders*/genetics
Iron Metabolism Disorders*/pathology
Iron Metabolism Disorders*/physiopathology
Neuroaxonal Dystrophies*/diagnosis
Neuroaxonal Dystrophies*/genetics
Neuroaxonal Dystrophies*/pathology
Neuroaxonal Dystrophies*/physiopathology
Parkinsonian Disorders*/diagnosis
Parkinsonian Disorders*/genetics
Parkinsonian Disorders*/pathology
Parkinsonian Disorders*/physiopathology
Alkaline Phosphatase/*genetics
Basal Ganglia/*pathology
Adult ; Basal Ganglia/diagnostic imaging ; Humans ; Magnetic Resonance Imaging ; Male
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Raport
Tytuł :
Phenotypic and Imaging Spectrum Associated With WDR45.
Autorzy :
Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address: .
Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Malhotra A; Illumina Clinical Services Laboratory, Illumina, Inc., San Diego, California.
Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Williams C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Anttonen AK; Folkhälsan Research Center, Helsinki, Finland; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Lesca G; Department of Medical genetics, Lyon University Hospital, Bron, France.
Linnankivi T; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Laurencin C; Hôpital Neurologique Pierre Wertheimer, Bron, France.
Milh M; Aix-Marseille Université, Marseille, France.
Perrine C; Hôpital de La Salpêtrière, Paris, France.
Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Poulat AL; Department of Pediatric Neurology, Lyon University Hospital, Bron, France.
Ville D; Department of Pediatric Neurology, Lyon University Hospital, Bron, France.
Hagelstrom T; Illumina Clinical Services Laboratory, Illumina, Inc., San Diego, California.
Perry DL; Illumina Clinical Services Laboratory, Illumina, Inc., San Diego, California.
Taft RJ; Illumina Clinical Services Laboratory, Illumina, Inc., San Diego, California.
Goldstein A; Division of Metabolism, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Vossough A; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
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Źródło :
Pediatric neurology [Pediatr Neurol] 2020 Aug; Vol. 109, pp. 56-62. Date of Electronic Publication: 2020 Mar 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Demyelinating Diseases*/diagnosis
Demyelinating Diseases*/etiology
Demyelinating Diseases*/genetics
Demyelinating Diseases*/physiopathology
Developmental Disabilities*/diagnosis
Developmental Disabilities*/etiology
Developmental Disabilities*/genetics
Developmental Disabilities*/physiopathology
Epilepsy*/diagnosis
Epilepsy*/etiology
Epilepsy*/genetics
Epilepsy*/physiopathology
Iron Metabolism Disorders*/complications
Iron Metabolism Disorders*/diagnosis
Iron Metabolism Disorders*/genetics
Iron Metabolism Disorders*/physiopathology
Neuroaxonal Dystrophies*/complications
Neuroaxonal Dystrophies*/diagnosis
Neuroaxonal Dystrophies*/genetics
Neuroaxonal Dystrophies*/physiopathology
Carrier Proteins/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe

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