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Wyświetlanie 1-20 z 743
Tytuł:
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
Autorzy:
Khalil Y; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Carrino S; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy.
Lin F; Department of Renal Medicine, University College London, London NW3 2PF, UK.; Department of Nephrology, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200082, China.
Ferlin A; Department of Renal Medicine, University College London, London NW3 2PF, UK.; Clinical Genetics and Genomics Laboratory, Royal Brompton Hospital, London SW3 6NP, UK.
Lad HV; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Mazzacuva F; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Bioscience, University of East London, London E15 4LZ, UK.
Falcone S; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Rivers N; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Banks G; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Concas D; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Aguilar C; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Haynes AR; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Blease A; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Nicol T; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Al-Shawi R; Genetics Unit and Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London NW3 2PF, UK.
Heywood W; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Potter P; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Mills K; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Gale DP; Department of Renal Medicine, University College London, London NW3 2PF, UK.
Clayton PT; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Jan 17; Vol. 23 (2). Date of Electronic Publication: 2022 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Carbon-Carbon Lyases/*genetics
Lipidomics/*methods
Peroxisomes/*metabolism
Phytol/*administration & dosage
Proteomics/*methods
Animals ; Brain/metabolism ; Cytochrome P450 Family 2/metabolism ; Cytochrome P450 Family 4/metabolism ; Fatty Acids/metabolism ; Female ; Gene Knockout Techniques ; Kidney/metabolism ; Liver/metabolism ; Male ; Mice ; Oxidation-Reduction ; Phytanic Acid/analogs & derivatives ; Phytanic Acid/metabolism ; Phytol/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism.
Autorzy:
Blankestijn M; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Bloks VW; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Struik D; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Huijkman N; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; iPSC/CRISPR Center Groningen, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Kloosterhuis N; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; iPSC/CRISPR Center Groningen, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Wolters JC; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Wanders RJA; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
Vaz FM; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Islinger M; Institute of Neuroanatomy, Mannheim Center for Translational Neuroscience, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Kuipers F; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van de Sluis B; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; iPSC/CRISPR Center Groningen, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Groen AK; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Laboratory of Experimental Vascular Medicine, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Verkade HJ; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jonker JW; Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 15; Vol. 12 (1), pp. 2512. Date of Electronic Publication: 2022 Feb 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fatty Acids/*metabolism
Fatty Acids, Unsaturated/*metabolism
Liver/*metabolism
Membrane Proteins/*metabolism
Signal Transduction/*genetics
Animals ; Bile Acids and Salts/metabolism ; CRISPR-Cas Systems ; Diet/methods ; Female ; Fenofibrate/administration & dosage ; Gene Editing/methods ; Gene Knockout Techniques/methods ; Male ; Membrane Proteins/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Oxidation-Reduction/drug effects ; PPAR alpha/metabolism ; Peroxisomes/drug effects ; Peroxisomes/metabolism ; Phytanic Acid/metabolism ; Phytol/administration & dosage
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
phytanoyl-CoA dioxygenase domain-containing protein 1 plays an important role in egg shell formation of silkworm (Bombyx mori).
Autorzy:
Chen A; The Sericultural and Apicultural Research Institute, Yunnan Academy of Agricultural Sciences, Mengzi, Yunnan, China.; The Key Sericultural Laboratory of Shaanxi, Ankang University, Ankang, Shaanxi, China.
Liao P; The Sericultural and Apicultural Research Institute, Yunnan Academy of Agricultural Sciences, Mengzi, Yunnan, China.
Li Q; The Sericultural and Apicultural Research Institute, Yunnan Academy of Agricultural Sciences, Mengzi, Yunnan, China.
Zhao Q; The Sericultural Research Institute, Jiangsu University of Science and Technology, Zhenjiang, Jiangsu, China.
Gao M; The Sericultural Research Institute, Jiangsu University of Science and Technology, Zhenjiang, Jiangsu, China.
Wang P; The Sericultural Research Institute, Jiangsu University of Science and Technology, Zhenjiang, Jiangsu, China.
Liu Z; The Sericultural and Apicultural Research Institute, Yunnan Academy of Agricultural Sciences, Mengzi, Yunnan, China.
Meng G; The Key Sericultural Laboratory of Shaanxi, Ankang University, Ankang, Shaanxi, China.
Dong Z; The Sericultural and Apicultural Research Institute, Yunnan Academy of Agricultural Sciences, Mengzi, Yunnan, China.
Liu M; The Sericultural and Apicultural Research Institute, Yunnan Academy of Agricultural Sciences, Mengzi, Yunnan, China.
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Źródło:
PloS one [PLoS One] 2021 Dec 30; Vol. 16 (12), pp. e0261918. Date of Electronic Publication: 2021 Dec 30 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Bombyx/*physiology
Egg Shell/*physiology
Oxygenases/*chemistry
Animals ; CRISPR-Cas Systems ; Chorion/chemistry ; Chromosomes ; Coenzyme A/chemistry ; Down-Regulation ; Female ; Gene Silencing ; Insect Proteins/genetics ; Larva/genetics ; Male ; Models, Genetic ; Mutation ; Phenotype ; Phytanic Acid/analogs & derivatives ; Phytanic Acid/chemistry ; Polymerase Chain Reaction ; Protein Domains ; RNA-Seq ; Reproduction ; Sex Chromosomes/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effects of dietary phytol on tissue accumulation of phytanic acid and pristanic acid and on the tissue lipid profiles in mice.
Autorzy:
Nakanishi T; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan.
Kagamizono K; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan.
Yokoyama S; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan.
Suzuki R; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan.
Sakakibara H; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan.
Erickson L; Department of Biology, Harold Washington City College of Chicago, Chicago, IL, USA.; Department of Health Sciences, Blitstein Institute of Hebrew Theological College, Chicago, IL, USA.
Kawahara S; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan.
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Źródło:
Animal science journal = Nihon chikusan Gakkaiho [Anim Sci J] 2020 Jan-Dec; Vol. 91 (1), pp. e13424.
Typ publikacji:
Journal Article
MeSH Terms:
Diet*
Fatty Acids/*metabolism
Phytanic Acid/*metabolism
Phytol/*administration & dosage
Adipose Tissue/metabolism ; Animals ; Brain/metabolism ; Fatty Acids, Unsaturated/metabolism ; Female ; Linoleic Acid/metabolism ; Lipid Metabolism/drug effects ; Liver/metabolism ; Mice, Inbred C57BL ; Phytol/pharmacology ; Tissue Distribution
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phytanic acid stimulates glucose uptake in a model of skeletal muscles, the primary porcine myotubes.
Autorzy:
Che BN; Department of Food Science, Aarhus University, Blichers Allé 20, Tjele, 8830, Denmark.
Oksbjerg N
Hellgren LI
Nielsen JH
Young JF
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Źródło:
Lipids in health and disease [Lipids Health Dis] 2013 Feb 11; Vol. 12, pp. 14. Date of Electronic Publication: 2013 Feb 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Deoxyglucose/*metabolism
Insulin/*pharmacology
Muscle Fibers, Skeletal/*drug effects
Phytanic Acid/*pharmacology
Animals ; Biological Transport ; Cell Differentiation ; Cell Survival/drug effects ; Fatty Acids/metabolism ; Female ; Glycogen/biosynthesis ; Insulin/metabolism ; Models, Biological ; Muscle Fibers, Skeletal/cytology ; Muscle Fibers, Skeletal/metabolism ; Phytanic Acid/metabolism ; Primary Cell Culture ; Satellite Cells, Skeletal Muscle/cytology ; Satellite Cells, Skeletal Muscle/metabolism ; Swine ; Tritium
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phytol/Phytanic acid and insulin resistance: potential role of phytanic acid proven by docking simulation and modulation of biochemical alterations.
Autorzy:
Elmazar MM; British Universityin Cairo, Cairo, Egypt.
El-Abhar HS
Schaalan MF
Farag NA
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Źródło:
PloS one [PLoS One] 2013; Vol. 8 (1), pp. e45638. Date of Electronic Publication: 2013 Jan 02.
Typ publikacji:
Journal Article
MeSH Terms:
Insulin Resistance*
Phytanic Acid/*metabolism
Phytol/*metabolism
Algorithms ; Animals ; Catalytic Domain ; Crystallography, X-Ray ; Dimerization ; Hydrogen Bonding ; Ligands ; Male ; Molecular Docking Simulation ; PPAR gamma/chemistry ; Phytanic Acid/chemistry ; Phytol/chemistry ; Protein Binding ; Rats ; Rats, Wistar ; Retinoid X Receptor alpha/chemistry ; Software
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phytanic acid--an overlooked bioactive fatty acid in dairy fat?
Autorzy:
Hellgren LI; Center for Biological Sequence Analysis and Center for Advanced Food Studies, Department of System Biology, Technical University of Denmark, Lyngby, Denmark.
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Źródło:
Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 2010 Mar; Vol. 1190, pp. 42-9.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Dairy Products*
Dietary Fats/*metabolism
Fatty Acids/*metabolism
Phytanic Acid/*metabolism
Animals ; Fatty Acids/analysis ; Fatty Acids/chemistry ; Humans ; Ion Channels/metabolism ; Mitochondrial Proteins/metabolism ; PPAR alpha/agonists ; Phytanic Acid/blood ; Phytanic Acid/chemistry ; Racemases and Epimerases/genetics ; Retinoid X Receptors/agonists ; Uncoupling Protein 1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
Autorzy:
Subhashini P; Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
Jaya Krishna S; Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
Usha Rani G; Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
Sushma Chander N; Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
Maheshwar Reddy G; Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
Naushad SM; Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
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Źródło:
Journal of biochemistry [J Biochem] 2019 Jan 01; Vol. 165 (1), pp. 67-73.
Typ publikacji:
Journal Article
MeSH Terms:
Algorithms*
Machine Learning*
Peroxisomal Disorders/*diagnosis
Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Diagnosis, Differential ; Fatty Acids/blood ; Female ; Gas Chromatography-Mass Spectrometry ; Genetic Diseases, X-Linked/blood ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Peroxisomal Disorders/blood ; Peroxisomal Disorders/genetics ; Phenotype ; Phytanic Acid/blood ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Naturally occurring 3RS, 7R, 11R-phytanic acid suppresses in vitro T-cell production of interferon-gamma.
Autorzy:
Nakanishi T; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Motoba I; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Anraku M; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Suzuki R; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Yamaguchi Y; Department of Applied Chemistry, Faculty of Engineering, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Erickson L; Department of Biology, Harold Washington City College of Chicago, 30 E. Lake St, Chicago, IL, 60601, USA.; Department of Health Sciences, Blitstein Institute of Hebrew Theological College, 2606 W. Touhy Ave, Chicago, IL, 60645, USA.
Eto N; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Sugamoto K; Department of Applied Chemistry, Faculty of Engineering, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Matsushita Y; Department of Applied Chemistry, Faculty of Engineering, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan.
Kawahara S; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, 1-1 Gakuenkibanadai-nishi, Miyazaki, 889-2192, Japan. .
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Źródło:
Lipids in health and disease [Lipids Health Dis] 2018 Jun 23; Vol. 17 (1), pp. 147. Date of Electronic Publication: 2018 Jun 23.
Typ publikacji:
Journal Article
MeSH Terms:
Immunologic Factors/*pharmacology
Interferon-gamma/*genetics
PPAR alpha/*genetics
Phytanic Acid/*pharmacology
RNA, Messenger/*genetics
T-Lymphocytes/*drug effects
A549 Cells ; Animals ; Cell Differentiation/drug effects ; Female ; Gene Expression Regulation ; Genes, Reporter ; Humans ; Interferon-gamma/antagonists & inhibitors ; Interferon-gamma/immunology ; Luciferases/genetics ; Luciferases/metabolism ; Lymphocyte Activation/drug effects ; Mice ; Mice, Inbred C57BL ; NF-kappa B/genetics ; NF-kappa B/immunology ; Oxazoles/pharmacology ; PPAR alpha/agonists ; PPAR alpha/antagonists & inhibitors ; PPAR alpha/immunology ; Phytohemagglutinins/antagonists & inhibitors ; Phytohemagglutinins/pharmacology ; Primary Cell Culture ; RNA, Messenger/antagonists & inhibitors ; RNA, Messenger/immunology ; Signal Transduction ; Spleen/cytology ; Spleen/drug effects ; Spleen/immunology ; T-Box Domain Proteins/antagonists & inhibitors ; T-Box Domain Proteins/genetics ; T-Box Domain Proteins/immunology ; T-Lymphocytes/cytology ; T-Lymphocytes/immunology ; Tumor Necrosis Factor-alpha/antagonists & inhibitors ; Tumor Necrosis Factor-alpha/pharmacology ; Tyrosine/analogs & derivatives ; Tyrosine/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Phytanic acid accumulation is associated with conduction delay and sudden cardiac death in sterol carrier protein-2/sterol carrier protein-x deficient mice.
Autorzy:
Mönnig G; Department of Cardiology and Angiology, University Hospital Münster, Münster, Germany. />Wiekowski J
Kirchhof P
Stypmann J
Plenz G
Fabritz L
Bruns HJ
Eckardt L
Assmann G
Haverkamp W
Breithardt G
Seedorf U
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Źródło:
Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2004 Nov; Vol. 15 (11), pp. 1310-6.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Carrier Proteins/*metabolism
Heart Conduction System/*metabolism
Phytanic Acid/*metabolism
Animals ; Bradycardia/metabolism ; Carrier Proteins/genetics ; Death, Sudden, Cardiac ; Diet ; Electrocardiography ; Electrophysiologic Techniques, Cardiac ; Female ; Male ; Mice ; Mice, Inbred C57BL ; Myocytes, Cardiac/metabolism ; Oxidation-Reduction ; Phytanic Acid/adverse effects ; Time Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Newborn Screening in Japan
Współwytwórcy:
Tajima, Toshihiro
Yamaguchi, Seiji
Temat:
homocystinuria
cystathionine β-synthase deficiency
newborn screening
long-term outcome
social outcome
vitamin B6
methionine
phenylketonuria
hyperphenylalaninemia
phenylalanine hydroxylase
genetic analysis
neonatal screening
genotype–phenotype correlation
adult patients
Japanese
intellectual disability
psychiatric disability
treatment discontinuation
congenital hypothyroidism
Japan
re-evaluations
prevalence
lowering of thyroid stimulating hormone screening cutoffs
thyroid dysgenesis
thyroid dyshormonogenesis
transient congenital hypothyroidism
permanent congenital hypothyroidism
delayed rise in TSH
low birth weight
propionic acidemia
tandem mass spectrometry
propionylcarnitine
cardiomyopathy
QT prolongation
congenital adrenal hyperplasia
21-hydroxylase deficiency
methylmalonic acidemia
disorders of cobalamin metabolism
hypomethioninemia
isomer
stable-isotope dilution
derivatization
cobalamin
biotin
maternal 3-methylcronylglycinuria
argininosuccinic acid
spinal muscular atrophy
SMN1
deletion
incidence
peroxisomal disorders
adrenoleukodystrophy
very-long-chain fatty acids
plasmalogen
phytanic acid
presymptomatic diagnosis
ABCD1
whole-exome sequencing
dried blood spot
galactosemia
GALM
GALM deficiency
glycogen storage disease type 1a
allele-specific PCR
mCOP-PCR
melting curve
bic Book Industry Communication:M Medicine
Opis pliku:
image/jpeg
Dostęp URL:
https://directory.doabooks.org/handle/20.500.12854/78775  Link otwiera się w nowym oknie
Książka elektroniczna
Szczegóły
Tytuł:
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis
Autorzy:
Jeffrey J. Li
Jane J. Kim
Fauzia Nausheen
Pokaż więcej
Temat:
adult Refsum disease
rare disease
phytanic acid
quality of life
retinitis pigmentosa
PHYH
Nutrition. Foods and food supply
TX341-641
Źródło:
Nutrients, Vol 15, Iss 11, p 2551 (2023)
Opis pliku:
electronic resource
Relacje:
https://www.mdpi.com/2072-6643/15/11/2551; https://doaj.org/toc/2072-6643
Dostęp URL:
https://doaj.org/article/b685a976a0c34a35afe99d798945785e  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Autorzy:
Çim A; Dicle University Faculty of Medicine, Department of Medical Genetics, Diyarbakır, Turkey. E-mail: .
Coşkun S
Görükmez O
Yüksel H
Uluca Ü
Pietro ED
Plourde F
Braverman NE
Pokaż więcej
Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2015 Mar; Vol. 7 (1), pp. 69-72.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chondrodysplasia Punctata, Rhizomelic/*genetics
Mutation/*genetics
Receptors, Cytoplasmic and Nuclear/*genetics
Child ; Chondrodysplasia Punctata, Rhizomelic/metabolism ; Chondrodysplasia Punctata, Rhizomelic/pathology ; Female ; Gas Chromatography-Mass Spectrometry ; Heterozygote ; Homozygote ; Humans ; Male ; Pedigree ; Peroxisomal Targeting Signal 2 Receptor ; Phytanic Acid/metabolism ; Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells.
Autorzy:
Moser, Ann B.
Hey, Jody
Dranchak, Patricia K.
Karaman, Mazen W.
Zhao, Junsong
Cox, Laura A.
Ryder, Oliver A.
Hacia, Joseph G.
Pokaż więcej
Źródło:
Lipids in Health & Disease. 2013, Vol. 12 Issue 1, p1-5. 5p. 1 Diagram, 2 Graphs.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 743

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