Results 141 to 150 of about 17,427 (173)
Some of the next articles are maybe not open access.
Inborn Errors of Metabolism: Becoming Ready for Rare.
Pediatrics in review, 2022Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a variety of signs and symptoms appearing in infants and children.
S. Vergano
semanticscholar +1 more source
Orthopaedic Manifestations of Inborn Errors of Metabolism.
JBJS Reviews, 2021» Inborn errors of metabolism are disorders of carbohydrate, amino acid, organic acid, or purine and pyrimidine metabolism; disorders of fatty acid oxidation; disorders of metal metabolism; and lysosomal storage defects that can cause metabolic ...
Niyathi Prasad, A. Hamosh, P. Sponseller
semanticscholar +1 more source
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism.
Bibliotheca nutritio et dieta, 1973H, Bickel, H, Schmidt, L, Schürrle
openaire +3 more sources
Journal of Pediatric Endocrinology & Metabolism (JPEM), 2019
The establishment of expanded newborn screening (NBS) not only results in the early diagnosis and treatment of neonates with inborn errors of intermediary metabolism disorders (IEMDs) but also helps the affected females to reach the reproductive age ...
P. Manta-Vogli +3 more
semanticscholar +1 more source
The establishment of expanded newborn screening (NBS) not only results in the early diagnosis and treatment of neonates with inborn errors of intermediary metabolism disorders (IEMDs) but also helps the affected females to reach the reproductive age ...
P. Manta-Vogli +3 more
semanticscholar +1 more source
Jornal de Pediatria, 2018
Objectives To evaluate the role of next generation sequencing in genetic diagnosis of pediatric patients with persistent hypoglycemia. Study design Sixty‐four patients investigated through an extensive workup were divided in 3 diagnostic classes based on
Emanuela Ponzi +8 more
semanticscholar +1 more source
Objectives To evaluate the role of next generation sequencing in genetic diagnosis of pediatric patients with persistent hypoglycemia. Study design Sixty‐four patients investigated through an extensive workup were divided in 3 diagnostic classes based on
Emanuela Ponzi +8 more
semanticscholar +1 more source
Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
, 2005 Gerard T. Berry
openaire +2 more sources
Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India
Indian Journal of Pediatrics, 2021G. Passi, Akash Wakchaure, S. P. Jaiswal
semanticscholar +1 more source