Last Updated: 09/26/2026
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Found 30 publications
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.
Journal: Journal of community genetics
Published: February 04, 2023
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Journal: Scientific data
Published: January 06, 2020
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Journal: American journal of human genetics
Published: November 27, 2017
Health effects of the CPT1A P479L variant: responsible public health policy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 04, 2017
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
Journal: American journal of ophthalmology case reports
Published: July 31, 2017
Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Journal: Epilepsia
Published: July 05, 2017
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Journal: Journal of inherited metabolic disease
Published: August 03, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Journal: Journal of medical genetics
Published: July 19, 2016
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Journal: American journal of medical genetics. Part A
Published: April 29, 2016
LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis.
Journal: Parasites & vectors
Published: September 14, 2015
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Journal: Molecular genetics and metabolism
Published: September 04, 2015
Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets.
Journal: Nutrition research (New York, N.Y.)
Published: August 05, 2015
Last Updated: 09/26/2026