المؤلفون: Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., van Spronsen F; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands., Misko A; Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes V; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Spiegel R; Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel., Schwarz G; Center for Molecular Medicine Cologne, Köln, Germany., Wong F; Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia., Horman A; Great Ormond Street Hospital, London, UK., Pitt J; Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia., Sass JO; RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany., Lubout C; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article; Practice Guideline; Review

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: Sulfite Oxidase*/deficiency , Sulfite Oxidase*/genetics , Metal Metabolism, Inborn Errors*/diagnosis , Metal Metabolism, Inborn Errors*/therapy, Humans ; Consensus ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/therapy ; Amino Acid Metabolism, Inborn Errors/genetics ; Molybdenum Cofactors ; Infant, Newborn ; Coenzymes/deficiency ; Metalloproteins/deficiency ; Pteridines

SCR Disease Name: Molybdenum cofactor deficiency; Sulfite oxidase deficiency

المؤلفون: Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain. maria.luz.couce.pico@sergas.es., Bóveda MD; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Castiñeiras DE; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Vázquez-Mosquera ME; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., De Castro MJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Iglesias-Rodríguez AJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Colón C; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Cocho JA; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Sánchez P; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 17; Vol. 19 (1), pp. 202. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Neonatal Screening*/methods , Metabolism, Inborn Errors*/diagnosis, Humans ; Infant, Newborn ; Female ; Male ; Galactosemias/diagnosis ; Lipid Metabolism, Inborn Errors/diagnosis ; Phenylketonurias/diagnosis ; Phenylketonurias/epidemiology ; Follow-Up Studies ; Spain ; Acyl-CoA Dehydrogenase/deficiency

SCR Disease Name: Medium chain acyl CoA dehydrogenase deficiency

المؤلفون: Finezilber Y; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK., Massey C; Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Radley JA; London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK Elaine.murphy8@nhs.net.

المصدر: Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 413-416. Date of Electronic Publication: 2024 Sep 13.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101130961 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-7766 (Electronic) Linking ISSN: 14747758 NLM ISO Abbreviation: Pract Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Amidinotransferases*/deficiency , Amidinotransferases*/genetics , Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/genetics , Muscular Diseases* , Creatine*/deficiency , Creatine*/blood, Humans ; Adult ; Female ; Developmental Disabilities ; Intellectual Disability ; Speech Disorders

SCR Disease Name: Arginine-Glycine Amidinotransferase Deficiency

المؤلفون: Vieira Neto E; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.; Children's Neuroscience Institute, Department of Pediatrics, School of Medicine, and., Wang M; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Szuminsky AJ; Department of Biological Sciences, Kenneth P. Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Ferraro L; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.; School of Medicine and., Koppes E; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Wang Y; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Van't Land C; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Mohsen AW; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Zanatta G; Department of Biophysics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil., El-Gharbawy AH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Anthonymuthu TS; Adeptrix Corporation, Beverly, Massachusetts, USA., Tyurina YY; Department of Environmental and Occupational Health, Center for Free Radical and Antioxidant Health, School of Public Health., Tyurin VA; Department of Environmental and Occupational Health, Center for Free Radical and Antioxidant Health, School of Public Health., Kagan V; Department of Environmental and Occupational Health, Center for Free Radical and Antioxidant Health, School of Public Health.; Department of Pharmacology and Chemical Biology, School of Medicine; Department of Chemistry, Kenneth P. Dietrich School of Arts and Sciences; and Department of Radiation Oncology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Bayır H; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Redox Health Center, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Vockley J; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.; Department of Human Genetics, School of Public Health, Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

المصدر: JCI insight [JCI Insight] 2024 Sep 10; Vol. 9 (17). Date of Electronic Publication: 2024 Sep 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Cardiolipins*/metabolism , Mitochondrial Trifunctional Protein, alpha Subunit*/metabolism , Mitochondrial Trifunctional Protein, alpha Subunit*/genetics , Energy Metabolism*/genetics , Fibroblasts*/metabolism , Lipid Metabolism, Inborn Errors*/metabolism , Lipid Metabolism, Inborn Errors*/genetics , Lipid Metabolism, Inborn Errors*/pathology, Animals ; Humans ; Mice ; Mitochondrial Trifunctional Protein, beta Subunit/metabolism ; Mitochondrial Trifunctional Protein, beta Subunit/genetics ; Mitochondria/metabolism ; Mutation ; Mitochondrial Trifunctional Protein/deficiency ; Mitochondrial Trifunctional Protein/metabolism ; Mitochondrial Trifunctional Protein/genetics ; Rhabdomyolysis/metabolism ; Rhabdomyolysis/genetics ; Rhabdomyolysis/pathology ; Mitochondrial Myopathies/metabolism ; Mitochondrial Myopathies/genetics ; Mitochondrial Myopathies/pathology ; Oxygen Consumption ; Male ; Disease Models, Animal ; Lysophospholipids ; Cardiomyopathies ; Nervous System Diseases

SCR Disease Name: Trifunctional Protein Deficiency With Myopathy And Neuropathy

المؤلفون: Yoldaş Çelik M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Canda E; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yazıcı H; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Erdem F; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yüksel Yanbolu A; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Aykut A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Durmaz A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Anık A; Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, Turkey, Kalkan Uçar S; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Çoker M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Sep 05; Vol. 16 (3), pp. 361-366. Date of Electronic Publication: 2023 Jan 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Hypoglycemia*/etiology , Hypoglycemia*/diagnosis , Hypoglycemia*/genetics , Aromatic-L-Amino-Acid Decarboxylases*/deficiency , Aromatic-L-Amino-Acid Decarboxylases*/genetics , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/diagnosis, Humans ; Female ; Child, Preschool

SCR Disease Name: Aromatic amino acid decarboxylase deficiency

المؤلفون: Wang CH; Department of Infectious Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China., Lu M; Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361003, China., Zhao J; Department of Infectious Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China., Huang BQ; Department of Infectious Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China., Ye PP; Department of Infectious Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China., Wang JS; Department of Infectious Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Sep 02; Vol. 62 (9), pp. 877-882.

نوع المنشور: Journal Article; Case Reports; Review; English Abstract

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome P450 Family 7*/genetics , Mutation* , Cholestasis*/diagnosis , Cholestasis*/drug therapy , Cholestasis*/genetics , Steroid Metabolism, Inborn Errors*/diagnosis , Steroid Metabolism, Inborn Errors*/drug therapy , Steroid Metabolism, Inborn Errors*/genetics, Female ; Humans ; Infant ; Infant, Newborn ; Male ; Bile Acids and Salts/metabolism ; Bile Acids and Salts/blood ; Liver/metabolism ; Retrospective Studies ; Steroid Hydroxylases

SCR Disease Name: Bile Acid Synthesis Defect, Congenital, 3

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

المؤلفون: Mastrangelo M; Woman/Child Health and Urological Sciences Department, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy. mario.mastrangelo@uniroma1.it.; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy. mario.mastrangelo@uniroma1.it., Manti F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Ricciardi G; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cinnante EMC; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cameli N; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Beatrice A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Tolve M; Clinical Pathology Unit, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy., Pisani F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

المصدر: European journal of pediatrics [Eur J Pediatr] 2024 Sep; Vol. 183 (9), pp. 3665-3678. Date of Electronic Publication: 2024 Jul 02.

نوع المنشور: Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers*/cerebrospinal fluid , Biomarkers*/blood , Carbohydrate Metabolism, Inborn Errors*/diagnosis , Carbohydrate Metabolism, Inborn Errors*/cerebrospinal fluid, Humans ; Prognosis ; Child ; Lactic Acid/cerebrospinal fluid ; Lactic Acid/blood ; Blood Glucose/analysis ; Diet, Ketogenic ; Child, Preschool ; Glucose Transporter Type 1/genetics ; Glucose/cerebrospinal fluid ; Monosaccharide Transport Proteins/deficiency

SCR Disease Name: Glut1 Deficiency Syndrome

المؤلفون: Daher RT; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Taoum KE; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Samaha J; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Karam PE; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 29; Vol. 19 (1), pp. 315. Date of Electronic Publication: 2024 Aug 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Tertiary Care Centers* , Lipid Metabolism, Inborn Errors*/diagnosis , Lipid Metabolism, Inborn Errors*/genetics , Lipid Metabolism, Inborn Errors*/metabolism , Fatty Acids*/metabolism, Humans ; Lebanon ; Female ; Male ; Infant ; Infant, Newborn ; Retrospective Studies ; Child, Preschool ; Child ; Adolescent ; Young Adult

المؤلفون: Azadeh M; Ultragenyx Pharmaceutical, Inc., Novato, California, USA., Good J; BioAgilytix, Durham, North Carolina, USA., Gunsior M; Astria Therapeutics, Boston, Massachusetts, USA., Kulagina N; Smithers Pharmaceutical Development Services, Gaithersburg, Maryland, USA., Lu Y; Sangamo Therapeutics, Richmond, California, USA., McNally J; BioAgilytix, Durham, North Carolina, USA., Myler H; Takeda Pharmaceuticals, Boston, Massachusetts, USA., Ni YG; Passage Bio, Inc., Philadelphia, Pennsylvania, USA., Pelto R; Alexion, AstraZeneca Rare Disease, New Haven, Connecticut, USA., Quadrini KJ; Passage Bio, Inc., Philadelphia, Pennsylvania, USA., Vrentas C; Pharmaceutical Product Development, a ThermoFisher Company, Richmond, Virginia, USA. cevrentas@gmail.com.; Richmond, Virginia, USA. cevrentas@gmail.com., Yang L; Regenxbio, Rockville, Maryland, USA.

المصدر: The AAPS journal [AAPS J] 2024 Aug 23; Vol. 26 (5), pp. 97. Date of Electronic Publication: 2024 Aug 23.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: American Association of Pharmaceutical Scientists Country of Publication: United States NLM ID: 101223209 Publication Model: Electronic Cited Medium: Internet ISSN: 1550-7416 (Electronic) Linking ISSN: 15507416 NLM ISO Abbreviation: AAPS J Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers*/metabolism , Metabolism, Inborn Errors*/drug therapy , Metabolism, Inborn Errors*/diagnosis , Metabolism, Inborn Errors*/genetics , Drug Development*/methods, Humans ; Enzyme Assays/methods ; Animals ; Enzyme Replacement Therapy/methods