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Trends in Genetics : TIG|April 3, 2022
Genetic disorders of cellular traffickingAngeles García-Cazorla, Alfonso Oyarzábal, Jean-Marie Saudubray, et al.Nutrients|August 12, 2023
Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein FoodsDolores Garcia-Arenas, Blanca Barrau-Martinez, Arnau Gonzalez-Rodriguez, et al.Orphanet Journal of Rare Diseases|June 22, 2018
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic aciduriasAnupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, et al.European Journal of Human Genetics : EJHG|July 29, 2010
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiencyJudit García-Villoria, Laura Gort, Irene Madrigal, et al.Human Molecular Genetics|May 10, 2008
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenanceHasan O Akman, Beatriz Dorado, Luis C López, et al.Human Molecular Genetics|November 26, 2008
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceLuis C López, Hasan O Akman, Angeles García-Cazorla, et al.Journal of Inherited Metabolic Disease|January 10, 2024
Tetrahydrobiopterin (BH<sub>4</sub>) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse modelKunwar Jung-Kc, Alba Tristán-Noguero, Altanchimeg Altankhuyag, et al.American Journal of Medical Genetics. Part A|September 15, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup diseaseNishitha R Pillai, Delia Yubero, Brian J Shayota, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registryJulian Teinert, Florian Gleich, Viktor Kozich, et al.Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.Pageof 2