Last Updated: 09/26/2026
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Found 146 publications
Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.
Journal: Molecular genetics and metabolism
Published: April 20, 2026
L-citrulline treatment of nitric oxide deficiency in MELAS a phase I dose-finding and safety study.
Journal: Molecular genetics and metabolism
Published: March 14, 2026
Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being.
Journal: Journal of rare diseases (Berlin, Germany)
Published: September 30, 2025
Investigating food-related behaviors in Smith-Magenis syndrome: tailoring a questionnaire for a rare disease.
Journal: Journal of rare diseases (Berlin, Germany)
Published: August 21, 2025
Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.
Journal: Molecular genetics and metabolism reports
Published: August 21, 2025
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.
Journal: Brain : a journal of neurology
Published: July 14, 2025
An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.
Journal: American journal of medical genetics. Part A
Published: April 10, 2025
Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Journal: International journal of molecular sciences
Published: March 28, 2025
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.
Journal: American journal of medical genetics. Part A
Published: October 04, 2024
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.
Journal: Molecular genetics and metabolism
Published: September 06, 2024
Last Updated: 09/26/2026