Results 131 to 140 of about 8,189 (189)

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study. [PDF]

Nutrients
Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +7 more
europepmc   +1 more source

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening. [PDF]

Int J Neonatal Screen
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, Couce ML, González-Lamuño D, Neonatal Screening Working Group of AECOM.   +10 more
europepmc   +1 more source

Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report. [PDF]

Front Pediatr
Zhang G, Zhang L, Liu H.
europepmc   +1 more source

Neurologic outcome following liver transplantation for methylmalonic aciduria

Journal of Inherited Metabolic Disease, 2023
: Liver and liver/kidney transplantation are increasingly used in methylmalonic aciduria, but little is known on their impact on CNS. The effect of transplantation on neurological outcome was prospectively assessed in six patients pre- and post ...
Giulio Catesini, Alessia Guarnera, Roberto Bianchi   +2 more
exaly   +3 more sources

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Methylmalonic and propionic aciduria†

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2006
AbstractMethylmalonic and propionic aciduria (PA) are the most frequent forms of branched‐chain organic acidurias. These autosomal recessive disorders result from deficient activity of methylmalonyl‐CoA mutase and propionyl‐CoA carboxylase, respectively.
Carlo Dionisi-Vici, Filippo Maria Santorelli, Federica Deodato   +2 more
exaly   +3 more sources

Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria

Clinica Chimica Acta, 2010
Background: Methylmalonic aciduria combined with homocystinuria (MMA–HC) is the biochemical trait of a metabolic disorder resulting from impaired conversion of dietary cobalamin (cbl, or vitamin B12) to its two metabolically active forms.
Antonella Fais, Marcella Corda
exaly   +3 more sources

Benign Methylmalonic Aciduria

New England Journal of Medicine, 1984
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is usually considered to be a serious, often life-threatening disease. However, through routine screening of urine in neonates or screening of siblings of clinically affected neonates, we have identified eight children who have a benign clinical variant of this disorder.
F D, Ledley, H L, Levy, V E, Shih, R, Benjamin, M J, Mahoney   +4 more
openaire   +2 more sources