Results 151 to 160 of about 5,012,650 (270)

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [PDF]

open access: yes, 2017
The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC).
Baumgartner, Matthias R.   +5 more
core  

Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia

open access: yesÇocuk Dergisi
Objective: We aimed to evaluate the frequency of pathological changes in blood parameters and their relationship with serum creatinine and glomerular filtration rate (GFR) in patients with methylmalonic acidemia.
Mehmet Cihan Balcı   +2 more
doaj   +1 more source

Déficit subclinique en vitamine B12 chez les nouveau-nés [PDF]

open access: yes, 2014
Background: In the past years, we diagnosed subclinical vitamin B12 deficiency in infants with hypotonia, motor delay and/or infant malaise. These infants had elevated methylmalonic acid (MMA) in plasma and urine and plasma B12 in the low normal range ...
WILD, M.
core  

Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia [PDF]

open access: bronze, 2006
Luis Aldámiz‐Echevarría   +6 more
openalex   +1 more source

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