Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Berry, Susan A; Leslie, Nancy D; Edick, Mathew J; Hiner, Sally; Justice, Kaitlin; Cameron, Cynthia.
; 18(12): 1276-1281, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27195819
Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.
Inherited metabolic rare disease.
When zebras run with horses - inherited metabolic diseases come mainstream.
The importance of anthropological methods in the diagnosis of rare diseases.
Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.
Lebertransplantation als Therapie von seltenen Erkrankungen beim Erwachsenen.