Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients
Autor: | Jessica Myers, Kees Schoonderwoerd, Dimitar Gavrilov, Debra S Regier, Jose E. Abdenur, Debra-Lynn Day-Salvatore, Cristel C. Chapel-Crespo, Haley Lynn, Maija R. Steenari, Danielle Starin, Mary Sowa |
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Přispěvatelé: | Clinical Genetics |
Rok vydání: | 2019 |
Předmět: |
Male
Adolescent Carboxy-Lyases Long term follow up Endocrinology Diabetes and Metabolism Methylmalonic acid Bioinformatics Biochemistry Cohort Studies chemistry.chemical_compound Endocrinology Text mining Genetics Malonyl-CoA decarboxylase deficiency medicine Humans Child Molecular Biology business.industry Infant Newborn Follow up studies Infant medicine.disease Malonyl Coenzyme A Multicenter study chemistry Child Preschool Mutation Mutation (genetic algorithm) Female business Metabolism Inborn Errors Follow-Up Studies Methylmalonic Acid Cohort study |
Zdroj: | Molecular Genetics and Metabolism, 128(1-2), 113-121. Academic Press |
ISSN: | 1096-7192 |
Databáze: | OpenAIRE |
Externí odkaz: |