Last Updated: 09/26/2026
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Found 17 publications
Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
Journal: International journal of neonatal screening
Published: September 05, 2025
Carbonic anhydrase VA deficiency due to a novel CA5A variant.
Journal: Molecular genetics and metabolism reports
Published: August 18, 2025
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
Journal: Orphanet journal of rare diseases
Published: August 06, 2025
A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.
Journal: Frontiers in cell and developmental biology
Published: November 03, 2024
Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.
Journal: Journal of investigative medicine high impact case reports
Published: August 15, 2024
Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel AP1S1 Variant.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: June 06, 2023
Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.
Journal: American journal of medical genetics. Part A
Published: October 25, 2022
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Journal: American journal of medical genetics. Part A
Published: October 11, 2022
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Journal: American journal of medical genetics. Part A
Published: July 15, 2021
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Journal: American journal of medical genetics. Part A
Published: February 19, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Journal: Molecular genetics and metabolism reports
Published: February 17, 2021
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.
Journal: Molecular genetics and metabolism reports
Published: February 12, 2021
Last Updated: 09/26/2026