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

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

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

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

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

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

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

المؤلفون: Mateu-Bosch A; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain., Segur-Bailach E; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., García-Villoria J; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Section of Inborn Errors of Metabolism-IBC, Biochemial and Molecular Genetics Department, Hospital Clinic de Barcelona, Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Group, Barcelona, Spain., Gea-Sorlí S; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Ruiz I; Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain., Del Rey J; Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain., Camps J; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Barcelona, Spain., Guitart-Mampel M; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Group, Barcelona, Spain., Garrabou G; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Group, Barcelona, Spain., Tort F; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Group, Barcelona, Spain., Ribes A; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Group, Barcelona, Spain., Fillat C; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. cfillat@recerca.clinic.cat.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain. cfillat@recerca.clinic.cat.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain. cfillat@recerca.clinic.cat.

المصدر: Gene therapy [Gene Ther] 2024 Jan; Vol. 31 (1-2), pp. 12-18. Date of Electronic Publication: 2023 Nov 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: Lysine*/genetics , Neuroblastoma* , Amino Acid Metabolism, Inborn Errors* , Brain Diseases, Metabolic*, Humans ; Animals ; Mice ; Glutaryl-CoA Dehydrogenase/genetics ; Glutaryl-CoA Dehydrogenase/metabolism ; Mice, Knockout ; Genetic Therapy

SCR Disease Name: Glutaric Acidemia I

المؤلفون: Tibelius A; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany., Evers C; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany., Oeser S; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany., Rinke I; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany., Jauch A; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany., Hinderhofer K; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.

المصدر: Genes [Genes (Basel)] 2023 Dec 14; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases, Metabolic*/diagnosis, Humans ; Glutaryl-CoA Dehydrogenase ; Phenotype ; Genotype

SCR Disease Name: Glutaric Acidemia I

المؤلفون: Vijan A; From the Departments of Radiology of Tata Memorial Hospital, Dr Ernest Borges Rd, Parel East, Mumbai, Maharashtra 40012, India (A.V.); University of British Columbia, Vancouver, British Columbia, Canada (P.K.); Peter MacCallum Cancer Centre, Melbourne, Australia (A.N.M.); and Bai Jerbai Wadia Hospital for Children, Mumbai, India (F.G.)., Khoshpouri P; From the Departments of Radiology of Tata Memorial Hospital, Dr Ernest Borges Rd, Parel East, Mumbai, Maharashtra 40012, India (A.V.); University of British Columbia, Vancouver, British Columbia, Canada (P.K.); Peter MacCallum Cancer Centre, Melbourne, Australia (A.N.M.); and Bai Jerbai Wadia Hospital for Children, Mumbai, India (F.G.)., Murphy AN; From the Departments of Radiology of Tata Memorial Hospital, Dr Ernest Borges Rd, Parel East, Mumbai, Maharashtra 40012, India (A.V.); University of British Columbia, Vancouver, British Columbia, Canada (P.K.); Peter MacCallum Cancer Centre, Melbourne, Australia (A.N.M.); and Bai Jerbai Wadia Hospital for Children, Mumbai, India (F.G.)., Gala F; From the Departments of Radiology of Tata Memorial Hospital, Dr Ernest Borges Rd, Parel East, Mumbai, Maharashtra 40012, India (A.V.); University of British Columbia, Vancouver, British Columbia, Canada (P.K.); Peter MacCallum Cancer Centre, Melbourne, Australia (A.N.M.); and Bai Jerbai Wadia Hospital for Children, Mumbai, India (F.G.).

المصدر: Radiographics : a review publication of the Radiological Society of North America, Inc [Radiographics] 2023 Nov; Vol. 43 (11), pp. e230114.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Radiological Society of North America Country of Publication: United States NLM ID: 8302501 Publication Model: Print Cited Medium: Internet ISSN: 1527-1323 (Electronic) Linking ISSN: 02715333 NLM ISO Abbreviation: Radiographics Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnostic imaging , Brain Diseases, Metabolic*/diagnostic imaging, Humans ; Glutaryl-CoA Dehydrogenase

SCR Disease Name: Glutaric Acidemia I