Results 121 to 130 of about 2,017,541 (209)
The Turkish Journal of Pediatrics, 2015 We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%).
Mehmet Gündüz +5 more
doaj
Inborn errors of metabolism (IEM): a general overview [PDF]
, 2011 This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of inborn errors of ...
Ritenuti, Michel
core
Methylmalonic Acidemia: Can Treatment be Improved? [PDF]
, 2015 Methylmalonic acidemia (MMA) is a severe metabolic disorder, particularly with complete deficiency of methylmalonyl-CoA mutase. Dietary restriction has led to overt signs of deficiencies including skin rashes, hair loss, and poor growth.
Bilger, Kimberly +6 more
core +1 more source
Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever [PDF]
, 2015 core +1 more source
Extended Lombardy's Neonatal Screening Dataset. [PDF]
Sci DataLopiano G +3 more
europepmc +1 more source
Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]
CureusSrivastava P +4 more
europepmc +1 more source
Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]
Orphanet J Rare DisIjaz A +6 more
europepmc +1 more source