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Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

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Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

Journal of human genetics·2001

Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

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Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

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Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

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From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

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The Prevalence of Neuropathic Pain in Multiple Sclerosis-A Systematic Review and Meta-Analysis Using the NeuPSIG Algorithm.

European journal of pain (London, England)·2026

Mitophagy in neuronal health and disease: from mechanisms to neurodegeneration.

The Journal of clinical investigation·2026

The Association Between NT-Pro BNP, Nephropathy and Endothelial Dysfunction in Patients With Type 2 Diabetes Mellitus.

Diabetes, obesity & metabolism·2026

Concurrent sigmoid volvulus and caecal adenocarcinoma in a paraplegic patient with neurogenic bowel: a case report.

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Comparative Efficacy of Invasive and Non-Invasive Neuromodulation Techniques for Chronic Central and Peripheral Neuropathic Pain: A Systematic Review and Network Meta-Analysis.

Journal of pain research·2026

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Frontiers in neurology·2026

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A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration

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A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration

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