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1دورية أكاديمية
المؤلفون: Isasi E; Laboratorio de Neurobiología Celular y Molecular, Unidad Académica de Histología y Embriología, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.; Departamento de Neurobiología y Neuropatología, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay., Wajner M; Department of Biochemistry, Instituto de Ciencias Básicas da Saude, Universidade Federal de Río Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Duarte JA; Departamento de Medicina Interna, Serviço de Radiología, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Olivera-Bravo S; Departamento de Neurobiología y Neuropatología, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay. solivera@iibce.edu.uy.
المصدر: Neurotoxicity research [Neurotox Res] 2024 Jul 04; Vol. 42 (4), pp. 33. Date of Electronic Publication: 2024 Jul 04.
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 100929017 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-3524 (Electronic) Linking ISSN: 10298428 NLM ISO Abbreviation: Neurotox Res Subsets: MEDLINE
مواضيع طبية MeSH: Oligodendroglia*/metabolism , Oligodendroglia*/pathology , Amino Acid Metabolism, Inborn Errors*/pathology , Amino Acid Metabolism, Inborn Errors*/metabolism , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/metabolism , White Matter*/pathology , White Matter*/metabolism , Brain Diseases, Metabolic*/pathology , Brain Diseases, Metabolic*/metabolism, Humans ; Animals ; Myelin Sheath/metabolism ; Myelin Sheath/pathology
SCR Disease Name: Glutaric Acidemia I
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2دورية أكاديمية
المؤلفون: Bilal M; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Jafri L; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Majid H; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Khan AH; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Ahmed S; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan.
المصدر: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2024 Jun; Vol. 34 (6), pp. 646-649.
نوع المنشور: Journal Article; Observational Study
بيانات الدورية: Publisher: College of Physicians and Surgeons Pakistan Country of Publication: Pakistan NLM ID: 9606447 Publication Model: Print Cited Medium: Internet ISSN: 1681-7168 (Electronic) Linking ISSN: 1022386X NLM ISO Abbreviation: J Coll Physicians Surg Pak Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/genetics , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/genetics , Brain Diseases, Metabolic*/diagnosis , Brain Diseases, Metabolic*/genetics, Humans ; Pakistan ; Male ; Female ; Child, Preschool ; Infant ; Magnetic Resonance Imaging ; Infant, Newborn ; Brain/pathology ; Brain/diagnostic imaging
SCR Disease Name: Glutaric Acidemia I
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3دورية أكاديمية
المؤلفون: Schuurmans IME; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands., Hoogendoorn ADM; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands., Ribes A; Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain., Nadif Kasri N; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Garanto A; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.
المصدر: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103481. Date of Electronic Publication: 2024 Jun 19.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/pathology , Amino Acid Metabolism, Inborn Errors*/metabolism , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/genetics , Glutaryl-CoA Dehydrogenase*/metabolism , Brain Diseases, Metabolic*/genetics , Brain Diseases, Metabolic*/pathology , Brain Diseases, Metabolic*/metabolism , Induced Pluripotent Stem Cells*/metabolism, Humans ; Female ; Male ; Alleles ; Cell Line
SCR Disease Name: Glutaric Acidemia I
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4دورية أكاديمية
المؤلفون: Elola Pastor AI; Centro de Salud Mieres-Sur, Mieres. Asturias, Spain. Electronic address: anaisabel.elola@sespa.es., Prieto García B; Unidad de Bioquímica Clínica, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Díaz Martín JJ; Sección de Gastroenterología y Nutrición Pediátrica, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Asturias, Spain.
المصدر: Anales de pediatria [An Pediatr (Engl Ed)] 2024 May; Vol. 100 (5), pp. 318-324. Date of Electronic Publication: 2024 May 06.
نوع المنشور: Journal Article; Observational Study
بيانات الدورية: Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE
مواضيع طبية MeSH: Neonatal Screening*/methods , Glutaryl-CoA Dehydrogenase*/deficiency , Amino Acid Metabolism, Inborn Errors*/diagnosis , Brain Diseases, Metabolic*/diagnosis, Humans ; Infant, Newborn ; Retrospective Studies ; Male ; Female ; Tandem Mass Spectrometry ; Glutarates/blood ; Gestational Age ; Carnitine/analogs & derivatives
SCR Disease Name: Glutaric Acidemia I
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5دورية أكاديمية
المؤلفون: Sabi EM; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia., AlMogren M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, KSA, Saudi Arabia., Sebaa R; Department of Medical Laboratories, College of Applied Medical Sciences, Shaqra University, Shaqra 11961, Saudi Arabia., Sumaily KM; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia., AlMalki R; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, KSA, Saudi Arabia., Mujamammi AH; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, KSA, Saudi Arabia; The Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: aabdelraman46@kfshrc.edu.sa.
المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Apr 15; Vol. 557, pp. 117861. Date of Electronic Publication: 2024 Mar 13.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE
مواضيع طبية MeSH: Brain Diseases, Metabolic*/diagnosis , Brain Diseases, Metabolic*/genetics , Brain Diseases, Metabolic*/therapy , Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/genetics, Glutaryl-CoA Dehydrogenase/*deficiency, Humans ; Infant, Newborn ; Glutaryl-CoA Dehydrogenase/genetics ; Biomarkers ; Metabolomics
SCR Disease Name: Glutaric Acidemia I
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6دورية أكاديمية
المؤلفون: Chauvet E; Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Ribeiro D; Pediatric Radiology Unit, Radiology Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Kern I; Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Fluss J; Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 217-219. Date of Electronic Publication: 2024 Feb 07.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/diagnosis , Brain Diseases, Metabolic* , Glutaryl-CoA Dehydrogenase*/deficiency , Odontoid Process* , Spinal Cord Diseases*, Child, Preschool ; Female ; Humans ; Muscle Hypotonia
SCR Disease Name: Glutaric Acidemia I
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7دورية أكاديمية
المؤلفون: Barroso M; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gertzen M; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.; Psychiatry and Psychotherapy, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Puchwein-Schwepcke AF; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital, 4056 Basel, Switzerland., Preisler H; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Sturm A; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Reiss DD; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 81377 Munich, Germany., Danecka MK; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Muntau AC; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gersting SW; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 24; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 24.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
مواضيع طبية MeSH: Glutaryl-CoA Dehydrogenase*/chemistry , Glutaryl-CoA Dehydrogenase*/genetics , Amino Acid Metabolism, Inborn Errors*/enzymology , Amino Acid Metabolism, Inborn Errors*/genetics , Brain Diseases, Metabolic*/enzymology , Brain Diseases, Metabolic*/genetics, Protein Folding ; Mutation, Missense ; Protein Domains ; Humans ; Enzyme Stability ; Solubility
SCR Disease Name: Glutaric Acidemia I
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8دورية أكاديمية
المؤلفون: Wu R; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Khamrui S; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Dodatko T; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Leandro J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Sabovic A; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Violante S; The Donald B. and Catherine C. Marron Cancer Metabolism Center, Memorial Sloan Kettering Cancer Center, New York, New York 10021, United States., Cross JR; The Donald B. and Catherine C. Marron Cancer Metabolism Center, Memorial Sloan Kettering Cancer Center, New York, New York 10021, United States., Marsan E; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Kumar K; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., DeVita RJ; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Lazarus MB; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States.
المصدر: ACS chemical biology [ACS Chem Biol] 2024 Jul 19; Vol. 19 (7), pp. 1544-1553. Date of Electronic Publication: 2024 Jun 24.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101282906 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8937 (Electronic) Linking ISSN: 15548929 NLM ISO Abbreviation: ACS Chem Biol Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/drug therapy , Amino Acid Metabolism, Inborn Errors*/metabolism , Amino Acid Metabolism, Inborn Errors*/enzymology , Amino Acid Metabolism, Inborn Errors*/genetics , Brain Diseases, Metabolic*/drug therapy , Brain Diseases, Metabolic*/metabolism , Brain Diseases, Metabolic*/enzymology, Humans ; Glutarates/metabolism ; Glutarates/chemistry ; Losartan/pharmacology ; Losartan/chemistry ; Coenzyme A-Transferases/metabolism ; Coenzyme A-Transferases/antagonists & inhibitors ; Coenzyme A-Transferases/genetics ; Coenzyme A-Transferases/chemistry ; Valsartan ; Enzyme Inhibitors/pharmacology ; Enzyme Inhibitors/chemistry ; Crystallography, X-Ray ; Catalytic Domain ; Acyl Coenzyme A/metabolism ; Acyl Coenzyme A/chemistry ; Models, Molecular ; High-Throughput Screening Assays ; Glutaryl-CoA Dehydrogenase/deficiency
SCR Disease Name: Glutaric Acidemia I
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9دورية أكاديمية
المؤلفون: Barzi M; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Johnson CG; Center for Cell and Gene Therapy, Stem Cells and Regenerative Medicine Center, Baylor College of Medicine, Houston, TX 77030, USA., Chen T; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Rodriguiz RM; Department of Psychiatry and Behavioral Sciences, Cell Biology and Neurobiology, Mouse Behavioral and Neuroendocrine Analysis Core Facility, Duke University Medical Center, Durham, NC 27710, USA., Hemmingsen M; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Gonzalez TJ; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Rosales A; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Beasley J; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Peck CK; Biochemical Genetics Laboratory, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Ma Y; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Stiles AR; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Wood TC; Biochemical Genetics Laboratory, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Maeso-Diaz R; Department of Medicine, Division of Gastroenterology, Duke University Medical Center, Durham, NC 27710, USA., Diehl AM; Department of Medicine, Division of Gastroenterology, Duke University Medical Center, Durham, NC 27710, USA., Young SP; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Everitt JI; Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA., Wetsel WC; Department of Psychiatry and Behavioral Sciences, Cell Biology and Neurobiology, Mouse Behavioral and Neuroendocrine Analysis Core Facility, Duke University Medical Center, Durham, NC 27710, USA., Lagor WR; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX 77030, USA., Bissig-Choisat B; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Asokan A; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.; Department of Surgery, Duke University Medical Center, Durham, NC 27710, USA.; Department of Biomedical Engineering (BME) at the Duke University Pratt School of Engineering, Duke University Medical Center, Durham, NC 27710, USA.; Duke Cancer Center, Duke University Medical Center, Durham, NC 27710, USA., El-Gharbawy A; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Bissig KD; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Department of Medicine, Division of Gastroenterology, Duke University Medical Center, Durham, NC 27710, USA.; Department of Biomedical Engineering (BME) at the Duke University Pratt School of Engineering, Duke University Medical Center, Durham, NC 27710, USA.; Duke Cancer Center, Duke University Medical Center, Durham, NC 27710, USA.; Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC 27710, USA.
المصدر: Science translational medicine [Sci Transl Med] 2023 Apr 19; Vol. 15 (692), pp. eadf4086. Date of Electronic Publication: 2023 Apr 19.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE
مواضيع طبية MeSH: Glutaryl-CoA Dehydrogenase*/genetics , Glutaryl-CoA Dehydrogenase*/metabolism , Lysine*/metabolism, Animals ; Mice ; Mice, Knockout ; Liver/metabolism
SCR Disease Name: Glutaric Acidemia I
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10دورية أكاديمية
المؤلفون: Paria P; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: docpradip10@gmail.com., Saini AG; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: doc.arushi@gmail.com., Attri S; Pediatric Biochemistry Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: attrisavi@yahoo.co.in., Kaur R; Pediatric Biochemistry Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: rajdeep1389@gmail.com., Malhi P; Child Psychology Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: pmalhi18@hotmail.com., Didwal G; Pediatric Biochemistry Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: gunjan276@gmail.com., Kasinathan A; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: cerebratelife@gmail.com., Bhatia P; In-charge Pediatric Hematology & Pediatric Molecular Hematology Laboratory, Pediatric Hematology-Oncology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: prateekbhatia16@gmail.com., Sahu JK; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: jsh2003@gmail.com., Suthar R; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: drrenusuthar@gmail.com., Saini L; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: drlokeshsaini@gmail.com., Vyas S; Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: sameer574@yahoo.co.in., Panigrahi I; Genetics & Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: inupan@yahoo.com., Sankhyan N; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: drnsankhyan@yahoo.co.in.
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Jul; Vol. 39, pp. 49-58. Date of Electronic Publication: 2022 May 24.
نوع المنشور: Journal Article; Observational Study
بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/enzymology , Amino Acid Metabolism, Inborn Errors*/genetics , Brain Diseases, Metabolic*/enzymology , Brain Diseases, Metabolic*/genetics , Glutaryl-CoA Dehydrogenase*/chemistry , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/genetics, Child ; Cross-Sectional Studies ; Humans ; Quality of Life
SCR Disease Name: Glutaric Acidemia I