PDF) Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
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PDF] A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app, Orphanet Journal of Rare Diseases
PDF) Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
PDF) Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults
Abderrahim OUSSALAH, MCU-PH, MD, PhD, INSERM U954
PDF) Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
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Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications - ScienceDirect
PDF) Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR
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