Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Purine-Pyrimidine Metabolism, Inborn Errors"" wg kryterium: Temat

  Lista filtrów
Wyrównaj
Wyświetlanie 1-20 z 66
Tytuł:
Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in Caenorhabditis elegans.
Autorzy:
Moro CA; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Sony SA; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Franklin LP; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Dong S; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Peifer MM; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Wittig KE; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Hanna-Rose W; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2023 Sep 29; Vol. 19 (9), pp. e1010974. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Adenylosuccinate Lyase*/*deficiency
Adenylosuccinate Lyase*/genetics
Adenylosuccinate Lyase*/metabolism
Autistic Disorder*
Purine-Pyrimidine Metabolism, Inborn Errors*/genetics
Receptors, Biogenic Amine*
Caenorhabditis elegans Proteins*/genetics
Animals ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism
SCR Disease Name:
Adenylosuccinate lyase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
Autorzy:
Alizadeh Z; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Badalzadeh M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Heydarlou H; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Shakerian L; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Mahlooji Rad M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Zandieh F; Department of Asthma, Allergy and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Fazlollahi MR; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Pokaż więcej
Źródło:
Archives of Iranian medicine [Arch Iran Med] 2023 Dec 01; Vol. 26 (12), pp. 712-716. Date of Electronic Publication: 2023 Dec 01.
Typ publikacji:
Journal Article
MeSH Terms:
Anemia, Hemolytic, Autoimmune*/genetics
Primary Immunodeficiency Diseases*
Purine-Nucleoside Phosphorylase*/genetics
Purine-Nucleoside Phosphorylase*/deficiency
Humans ; Eosinophilia/genetics ; Iran ; Mutation ; Purine-Pyrimidine Metabolism, Inborn Errors/genetics
SCR Disease Name:
Purine Nucleoside Phosphorylase Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
New insights in research on purine and pyrimidine metabolism.
Autorzy:
Jordheim LP; Univ Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Peters GJ; Laboratory of Medical Oncology, Amsterdam UMC, VUMC, Amsterdam, The Netherlands.
Pokaż więcej
Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2022; Vol. 41 (3), pp. 247-254. Date of Electronic Publication: 2021 Oct 13.
Typ publikacji:
Congress
MeSH Terms:
Gout*
Purine-Pyrimidine Metabolism, Inborn Errors*/metabolism
Humans ; Purines/metabolism ; Pyrimidines/metabolism
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Autorzy:
Mastrogiorgio G; Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy. .; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. .
Macchiaiolo M; Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Buonuomo PS; Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bellacchio E; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bordi M; Department of Biology, University of Rome Tor Vergata, Rome, Italy.
Vecchio D; Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Brown KP; Parents of patients affected by Adenylosuccinate lyase deficiency, Patient's Association 'Our Journey with ADSL deficiency', Rome, Italy.
Watson NK; Parents of patients affected by Adenylosuccinate lyase deficiency, Patient's Association 'Our Journey with ADSL deficiency', Rome, Italy.
Contardi B; Parents of patients affected by Adenylosuccinate lyase deficiency, Patient's Association 'Our Journey with ADSL deficiency', Rome, Italy.
Cecconi F; Department of Biology, University of Rome Tor Vergata, Rome, Italy.; Onco-Haematology and Cellular and Gene Therapy Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bartuli A; Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 01; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Adenylosuccinate Lyase*/deficiency
Adenylosuccinate Lyase*/genetics
Autistic Disorder*
Purine-Pyrimidine Metabolism, Inborn Errors*/diagnosis
Purine-Pyrimidine Metabolism, Inborn Errors*/genetics
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype
SCR Disease Name:
Adenylosuccinate lyase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome.
Autorzy:
Arduini A; Pediatric Department, La Sapienza University of Rome, Rome, Italy.
Marasco E; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Marucci G; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Pardeo M; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Insalaco A; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Caiello I; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Moneta GM; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Prencipe G; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
De Benedetti F; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy.
Bracaglia C; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Piazza S. Onofrio 4, 00165, Rome, Italy. .
Pokaż więcej
Źródło:
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2019 May 22; Vol. 17 (1), pp. 25. Date of Electronic Publication: 2019 May 22.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arthritis, Juvenile/*diagnosis
Macrophage Activation Syndrome/*diagnosis
Primary Immunodeficiency Diseases/*diagnosis
Purine-Nucleoside Phosphorylase/*deficiency
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
Arthritis, Juvenile/complications ; Chemokine CXCL9/metabolism ; Diagnosis, Differential ; Humans ; Infant ; Interleukin-18/metabolism ; Lymphohistiocytosis, Hemophagocytic/complications ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Male ; Primary Immunodeficiency Diseases/complications ; Purine-Pyrimidine Metabolism, Inborn Errors/complications
SCR Disease Name:
Purine Nucleoside Phosphorylase Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Autorzy:
Fekrvand S; a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran, and the University of Medical Science , Tehran , Iran.
Yazdani R; a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran, and the University of Medical Science , Tehran , Iran.
Abolhassani H; a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran, and the University of Medical Science , Tehran , Iran.; b Division of Clinical Immunology, Department of Laboratory Medicine , Karolinska Institute at Karolinska University Hospital Huddinge , Stockholm , Sweden.
Ghaffari J; c Department of Pediatrics , Mazandaran University of Medical Sciences , Sari , Iran.
Aghamohammadi A; a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran, and the University of Medical Science , Tehran , Iran.
Pokaż więcej
Źródło:
Immunological investigations [Immunol Invest] 2019 May; Vol. 48 (4), pp. 410-430. Date of Electronic Publication: 2019 Mar 19.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Immunologic Deficiency Syndromes/*diagnosis
Purine-Nucleoside Phosphorylase/*deficiency
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
Anemia, Hemolytic, Autoimmune ; Chickenpox ; Child ; Fatal Outcome ; Female ; Humans ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Immunologic Deficiency Syndromes/genetics ; Mutation, Missense ; Primary Immunodeficiency Diseases ; Purine-Nucleoside Phosphorylase/genetics ; Purine-Pyrimidine Metabolism, Inborn Errors/genetics
SCR Disease Name:
Purine Nucleoside Phosphorylase Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons.
Autorzy:
Tsui M; Developmental and Stem Cell Biology Program, Hospital for Sick Children, Toronto, ON, Canada.; The Institute of Medical Sciences, The University to Toronto, Toronto, ON, Canada.
Biro J; Developmental and Stem Cell Biology Program, Hospital for Sick Children, Toronto, ON, Canada.
Chan J; Developmental and Stem Cell Biology Program, Hospital for Sick Children, Toronto, ON, Canada.
Min W; Developmental and Stem Cell Biology Program, Hospital for Sick Children, Toronto, ON, Canada.
Dobbs K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
Grunebaum E; Developmental and Stem Cell Biology Program, Hospital for Sick Children, Toronto, ON, Canada. .; The Institute of Medical Sciences, The University to Toronto, Toronto, ON, Canada. .; Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G1X8, Canada. .
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2022 May 31; Vol. 12 (1), pp. 9084. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
MeSH Terms:
Apoptosis*
Induced Pluripotent Stem Cells*/cytology
Neurons*/cytology
Purine-Nucleoside Phosphorylase*/deficiency
Purine-Nucleoside Phosphorylase*/metabolism
Tumor Suppressor Protein p53*/genetics
Humans ; Primary Immunodeficiency Diseases ; Purine-Pyrimidine Metabolism, Inborn Errors
SCR Disease Name:
Purine Nucleoside Phosphorylase Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Autorzy:
Sebesta I; a Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University , Prague , Czech Republic.; b Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine , Charles University , Prague , Czech Republic.
Stiburkova B; a Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University , Prague , Czech Republic.; c Institute of Rheumatology, First Faculty of Medicine , Charles University , Prague , Czech Republic.
Krijt J; a Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University , Prague , Czech Republic.
Pokaż więcej
Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2018; Vol. 37 (6), pp. 324-328. Date of Electronic Publication: 2018 May 03.
Typ publikacji:
Journal Article
MeSH Terms:
Aldehyde Oxidase/*deficiency
Metabolism, Inborn Errors/*epidemiology
Purine-Pyrimidine Metabolism, Inborn Errors/*epidemiology
Purines/*metabolism
Xanthine Dehydrogenase/*deficiency
Xanthine Dehydrogenase/*metabolism
Adult ; Aldehyde Oxidase/blood ; Aldehyde Oxidase/urine ; Allopurinol/metabolism ; Child ; Child, Preschool ; Czech Republic/epidemiology ; Diagnosis, Differential ; Humans ; Metabolism, Inborn Errors/blood ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/urine ; Purine-Pyrimidine Metabolism, Inborn Errors/blood ; Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis ; Purine-Pyrimidine Metabolism, Inborn Errors/urine ; Renal Tubular Transport, Inborn Errors/blood ; Renal Tubular Transport, Inborn Errors/epidemiology ; Renal Tubular Transport, Inborn Errors/urine ; Uric Acid/blood ; Uric Acid/urine ; Urinary Calculi/blood ; Urinary Calculi/epidemiology ; Urinary Calculi/urine ; Xanthine/blood ; Xanthine/urine ; Xanthine Dehydrogenase/blood ; Xanthine Dehydrogenase/urine
SCR Disease Name:
Renal hypouricemia; Xanthinuria, Type I; Xanthinuria, Type II
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Autorzy:
Rannou F; Physiology Department-EA 4324, CHRU Cavale Blanche, Brest, France.
Scotet V; Institut National de la Santé et de la Recherche Médicale - UMR 1078, Brest, France.
Marcorelles P; Pathology Department-EA 4685 LNB, CHRU Morvan, Brest, France.
Monnoyer R; Institut National de la Santé et de la Recherche Médicale - UMR 1078, Brest, France.
Le Maréchal C; Institut National de la Santé et de la Recherche Médicale - UMR 1078, Brest, France.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2017 Nov 02; Vol. 12 (11), pp. e0187266. Date of Electronic Publication: 2017 Nov 02 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
AMP Deaminase/*deficiency
Purine-Pyrimidine Metabolism, Inborn Errors/*genetics
AMP Deaminase/genetics ; AMP Deaminase/metabolism ; Adolescent ; Adult ; Biopsy ; Exercise Test ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Purine-Pyrimidine Metabolism, Inborn Errors/metabolism
SCR Disease Name:
Adenosine monophosphate deaminase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Advances in purine and pyrimidine metabolism in health and diseases.
Autorzy:
Hirano M; a Department of Neurology , Columbia University Medical Center , New York , New York , USA.
Peters GJ; b Department of Medical Oncology , VU University Medical Center , Amsterdam , The Netherlands.
Pokaż więcej
Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2016 Dec; Vol. 35 (10-12), pp. 495-501.
Typ publikacji:
Congress
MeSH Terms:
Purine-Pyrimidine Metabolism, Inborn Errors/*metabolism
Purines/*metabolism
Pyrimidines/*metabolism
Animals ; Humans ; Purine-Pyrimidine Metabolism, Inborn Errors/drug therapy
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial purine and pyrimidine metabolism and beyond.
Autorzy:
Wang L; a Department of Anatomy, Physiology and Biochemistry , Swedish University of Agricultural Sciences , Uppsala , Sweden.
Pokaż więcej
Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2016 Dec; Vol. 35 (10-12), pp. 578-594.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Purine Nucleotides/*biosynthesis
Purine-Pyrimidine Metabolism, Inborn Errors/*metabolism
Pyrimidine Nucleotides/*biosynthesis
Animals ; Biosynthetic Pathways ; DNA Replication ; DNA, Mitochondrial/biosynthesis ; DNA, Mitochondrial/genetics ; Humans ; Mitochondria/metabolism ; Oxidative Stress ; Purine-Pyrimidine Metabolism, Inborn Errors/drug therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Autorzy:
Rannou F; Physiology Department-EA 1274, CHRU Cavale Blanche, Brest, France.
Uguen A; Pathology Department, CHRU Morvan, Brest, France.
Scotet V; Institut National de la Santé et de la Recherche Médicale, UMR 1078, Brest, France.
Le Maréchal C; Institut National de la Santé et de la Recherche Médicale, UMR 1078, Brest, France.
Rigal O; Biochemistry Department, Robert Debré Hospital-APHP, Paris, France.
Marcorelles P; Pathology Department-EA 4685 LNB, CHRU Morvan, Brest, France.
Gobin E; Pathology Department, CHRU Morvan, Brest, France.
Carré JL; Biochemistry Department, CHRU Cavale Blanche, Brest, France.
Zagnoli F; Neurology Department-EA 4685 LNB, Clermont-Tonnerre Armed Forces Hospital, Brest, France.
Giroux-Metges MA; Physiology Department-EA 1274, CHRU Cavale Blanche, Brest, France.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2015 Jul 24; Vol. 10 (7), pp. e0132972. Date of Electronic Publication: 2015 Jul 24 (Print Publication: 2015).
Typ publikacji:
Clinical Trial; Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Algorithms*
Exercise Test*
AMP Deaminase/*deficiency
Glycogen Storage Disease/*diagnosis
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
AMP Deaminase/metabolism ; Adolescent ; Adult ; Biopsy ; Exercise/physiology ; Female ; Glycogen Storage Disease/metabolism ; Glycogen Storage Disease/pathology ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Purine-Pyrimidine Metabolism, Inborn Errors/metabolism ; Purine-Pyrimidine Metabolism, Inborn Errors/pathology ; Young Adult
SCR Disease Name:
Adenosine monophosphate deaminase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.
Autorzy:
Martin J; a Indiana University School of Medicine , Indianapolis , Indiana , USA.
Sharma R; a Indiana University School of Medicine , Indianapolis , Indiana , USA.
Nelson RP; a Indiana University School of Medicine , Indianapolis , Indiana , USA.
Schubert F; a Indiana University School of Medicine , Indianapolis , Indiana , USA.
Weida J; a Indiana University School of Medicine , Indianapolis , Indiana , USA.
Pokaż więcej
Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2016; Vol. 35 (2), pp. 120-3. Date of Electronic Publication: 2016 Feb 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Pregnancy Complications*
Pregnancy, High-Risk*
Purine-Pyrimidine Metabolism, Inborn Errors*
Purine-Nucleoside Phosphorylase/*deficiency
Female ; Humans ; Pregnancy ; Primary Immunodeficiency Diseases ; Young Adult
SCR Disease Name:
Purine Nucleoside Phosphorylase Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Exercise efficiency impairment in metabolic myopathies.
Autorzy:
Noury JB; Neurology Department, Neuromuscular Center, CHRU Cavale Blanche, Brest, F-29609, France.
Zagnoli F; Neurology Department, Neuromuscular Center, CHRU Cavale Blanche, Brest, F-29609, France.
Petit F; Molecular Genetics Department, APHP - GH Antoine Béclère, Paris, F-92140, France.
Marcorelles P; Pathology Department-EA 4685 LNB, Neuromuscular Center, CHRU Morvan, Brest, F-29609, France.
Rannou F; Department of Sport Medicine and Functional Explorations-CRNH Auvergne, Clermont-Ferrand University Hospital, G. Montpied Hospital, Clermont-Ferrand, F-63000, France. .
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2020 May 29; Vol. 10 (1), pp. 8765. Date of Electronic Publication: 2020 May 29.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Exercise Tolerance*
Exercise/*physiology
Muscular Diseases/*physiopathology
AMP Deaminase/deficiency ; Adolescent ; Adult ; Anthropometry ; Exercise Test ; Female ; Glycogen Storage Disease Type V/physiopathology ; Glycogen Storage Disease Type VII/physiopathology ; Humans ; Male ; Middle Aged ; Mitochondrial Diseases/physiopathology ; Myalgia/physiopathology ; Oxygen Consumption ; Purine-Pyrimidine Metabolism, Inborn Errors/physiopathology ; Young Adult
SCR Disease Name:
Adenosine monophosphate deaminase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Autorzy:
Marcadier JL
Smith AM
Pohl D
Schwartzentruber J
Al-Dirbashi OY
Majewski J
Ferdinandusse S
Wanders RJ
Bulman DE
Boycott KM
Chakraborty P
Geraghty MT
Pokaż więcej
Corporate Authors:
FORGE Canada Consortium
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jul 09; Vol. 8, pp. 98. Date of Electronic Publication: 2013 Jul 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amino Acid Metabolism, Inborn Errors/*diagnosis
Amino Acid Metabolism, Inborn Errors/*enzymology
Methylmalonate-Semialdehyde Dehydrogenase (Acylating)/*deficiency
Methylmalonate-Semialdehyde Dehydrogenase (Acylating)/*genetics
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
Amino Acid Metabolism, Inborn Errors/genetics ; Child, Preschool ; Exome/genetics ; Female ; Humans ; Methylmalonic Acid/metabolism ; Mutation ; Purine-Pyrimidine Metabolism, Inborn Errors/enzymology ; Purine-Pyrimidine Metabolism, Inborn Errors/genetics
SCR Disease Name:
Methylmalonate Semialdehyde Dehydrogenase Deficiency; Methylmalonic acidemia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Reducing risk in thiopurine therapy.
Autorzy:
Marinaki AM; Purine Research Laboratory, Viapath, St Thomas' Hospital, London, UK.
Arenas-Hernandez M; Purine Research Laboratory, Viapath, St Thomas' Hospital, London, UK.
Pokaż więcej
Źródło:
Xenobiotica; the fate of foreign compounds in biological systems [Xenobiotica] 2020 Jan; Vol. 50 (1), pp. 101-109. Date of Electronic Publication: 2019 Nov 12.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Drug Hypersensitivity/*genetics
Purine-Pyrimidine Metabolism, Inborn Errors/*genetics
Purines/*therapeutic use
Azathioprine/adverse effects ; Azathioprine/therapeutic use ; Erythrocytes ; Female ; Genotype ; Humans ; Male ; Mercaptopurine/adverse effects ; Mercaptopurine/analogs & derivatives ; Mercaptopurine/therapeutic use ; Methyltransferases ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Purines/adverse effects
SCR Disease Name:
Thiopurine S methyltranferase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Purine disorders with hypouricemia.
Autorzy:
Sebesta I; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague, Czech Republic.
Stiburkova B; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Czech Republic.
Pokaż więcej
Źródło:
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) [Pril (Makedon Akad Nauk Umet Odd Med Nauki)] 2014; Vol. 35 (1), pp. 87-92.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Purine-Pyrimidine Metabolism, Inborn Errors/*genetics
Purines/*metabolism
Renal Tubular Transport, Inborn Errors/*genetics
Uric Acid/*metabolism
Urinary Calculi/*genetics
Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Purine-Pyrimidine Metabolism, Inborn Errors/metabolism ; Renal Tubular Transport, Inborn Errors/metabolism ; Urinary Calculi/metabolism ; Young Adult
SCR Disease Name:
Renal hypouricemia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Autorzy:
Castro M; a Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Madrid , Spain.
Carrillo R
García F
Sanz P
Ferrer I
Ruiz-Sala P
Vega AI
Ruíz Desviat L
Pérez B
Pérez-Cerdá C
Merinero B
Ugarte M
Pokaż więcej
Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2014; Vol. 33 (4-6), pp. 233-40.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
Humans ; Purine-Pyrimidine Metabolism, Inborn Errors/enzymology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
Autorzy:
Monostori P; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Klinke G; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hauke J; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Richter S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Bierau J; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Garbade SF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Langhans CD; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Haas D; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Okun JG; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2019 Feb 28; Vol. 14 (2), pp. e0212458. Date of Electronic Publication: 2019 Feb 28 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms:
Chromatography, Liquid/*methods
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
Purine-Pyrimidine Metabolism, Inborn Errors/*urine
Tandem Mass Spectrometry/*methods
Adenine/analogs & derivatives ; Adenine/urine ; Adolescent ; Adult ; Aminoimidazole Carboxamide/analogs & derivatives ; Aminoimidazole Carboxamide/urine ; Biomarkers/urine ; Child ; Child, Preschool ; Chromatography, Liquid/standards ; Chromatography, Liquid/statistics & numerical data ; Female ; Humans ; Infant ; Male ; Quality Control ; Reference Values ; Ribonucleotides/urine ; Tandem Mass Spectrometry/standards ; Tandem Mass Spectrometry/statistics & numerical data ; Urea/analogs & derivatives ; Urea/urine ; Uridine/analogs & derivatives ; Uridine/urine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 66

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies