Desiree C. Smith

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 47 publications

Sulfate handling in proximal renal tubular defects: an exploratory study.

Sulfate handling in proximal renal tubular defects: an exploratory study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 18, 2026

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

Journal: American journal of medical genetics. Part A

Published: January 02, 2026

Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.

Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 27, 2025

Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.

Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.

Journal: The Journal of biological chemistry

Published: May 09, 2025

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

Journal: Molecular genetics & genomic medicine

Published: October 12, 2024

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

Journal: Nucleic acids research

Published: June 10, 2024

Sulfate: a neglected (but potentially highly relevant) anion.

Sulfate: a neglected (but potentially highly relevant) anion.

Journal: Essays in biochemistry

Published: January 29, 2024

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Journal: JIMD reports

Published: August 22, 2023

Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.

Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.

Journal: Nucleic acids research

Published: September 15, 2022

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.

Journal: Clinical genetics

Published: June 16, 2022

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.

Journal: Blood advances

Published: February 04, 2022

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

Journal: Human mutation

Published: June 03, 2021

Showing 1-12 of 47

Last Updated: 09/26/2026