Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition. [PDF]
J Inherit Metab DisVeraldi S +13 more
europepmc +1 more source
Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms. [PDF]
Ann Afr MedSadaria R.
europepmc +1 more source
Vaccination of children with inborn errors of metabolism: safety, immunogenicity, and practical implications. [PDF]
Eur J PediatrLipiński P, Jaczewska M, Jackowska T.
europepmc +1 more source
, 2001 Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core
Newborn screening in Karnataka: A scoping review of the landscape. [PDF]
PLOS Glob Public HealthKuriakose LM, Mohan D, Choudhury MC.
europepmc +1 more source
Severe Methylmalonic Acidemia Precipitated by Dietary B12 Deficiency in Vegan Toddler. [PDF]
Pediatr RepEdwell A, Bessler S, Burke S.
europepmc +1 more source
Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes. [PDF]
Front NeurolAlvi JR +7 more
europepmc +1 more source
Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis. [PDF]
Online J Public Health InformYang S, Song K, Chen Q, Jiang J, Wang L.
europepmc +1 more source
Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous <i>MTHFR</i> c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism. [PDF]
Front GenetAl Masseri Z +5 more
europepmc +1 more source
Interplay of anemia in inborn errors of energy metabolism. [PDF]
Sci RepShetye S +6 more
europepmc +1 more source