Jos N. Ruiter
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 24 publications
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Journal: American journal of medical genetics. Part A
Published: June 02, 2024
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Journal: Molecular genetics and metabolism
Published: May 29, 2024
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
Journal: Journal of inherited metabolic disease
Published: March 08, 2023
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Journal: Journal of inherited metabolic disease
Published: February 04, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
Journal: Journal of inherited metabolic disease
Published: December 17, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 20, 2021
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Journal: Molecular genetics and metabolism
Published: December 13, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Journal: Journal of inherited metabolic disease
Published: May 17, 2019
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Journal: Human mutation
Published: April 29, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Journal: American journal of human genetics
Published: March 29, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: February 02, 2019
Last Updated: 09/26/2026