Beneficial effects ofL-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Beneficial effects ofL-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Published:1998-08 Issue:2 Volume:44 Page:261-265
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

de Koning Tom J.,Duran Marinus,Dorland Lambertus,Gooskens Rob,van Schaftingen Emile,Jaeken Jaak,Blau Nenad,Berger Ruud,Poll-The Bwee Tien

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference13 articles.

1. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

2. Plasma free amino acid values in normal children and adolescents

3. Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection

4. Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring

5. 3-methylglutaconic aciduria in pregnancy

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1. Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials;Contemporary Clinical Trials Communications;2023-12

2. Biochemical and cellular studies of three human 3‐phosphoglycerate dehydrogenase variants responsible for pathological reduced L‐serine levels;BioFactors;2023-08-31

3. Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder;Molecular Genetics and Metabolism;2023-03

4. Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis;Pediatric Neurology;2023-03

5. Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review;International Journal of Developmental Neuroscience;2022-11-09

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