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Emergency Management of Intoxication-Type Inherited Metabolic Disorders. [PDF]
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Purines, creatine, defective methylation and their biochemical and clinical relationship [PDF]
, 2003 Araújo, Helena Paula de Freitas Caldeira
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Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI. [PDF]
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Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review. [PDF]
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Permissible HLA mismatches in 9/10 unrelated donor pediatric stem cell transplants using HLA-EMMA: an EBMT Inborn Errors Working Party study. [PDF]
Blood Advvon Asmuth EGJ +10 more
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A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam. [PDF]
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Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management. [PDF]
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Hyperammonaemic encephalopathy due to non-functioning urea cycle as a complication to gastric bypass surgery. [PDF]
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Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]
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