Ara
Toplam kayıt 4, listelenen: 1-4
Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring
(Academic Press Inc Elsevier Science, 2014)
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
Cobalamin C Disease Missed By Newborn Screening In A Patient With Low Carnitine Level
(Springer-Verlag Berlin, 2015)
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic ...
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV
(Springer-Verlag Berlin, 2014)
Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients ...
Pregnancy and Lactation Outcomes in a Turkish Patient With Lysinuric Protein Intolerance
(Springer-Verlag Berlin, 2014)
Maternal lysinuric protein intolerance (LPI) is associated with increased risk of anemia, toxemia, and retarded growth in fetus during pregnancy, and bleeding complications during delivery. There has been limited number ...