Results 81 to 90 of about 306 (158)

Tyrosinemia [PDF]

, 2020
openaire   +1 more source

Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study. [PDF]

Nutrients, 2021
Yilmaz O, Daly A, Pinto A, Ashmore C, Evans S, Gupte G, Jackson R, Yabanci Ayhan N, MacDonald A.   +8 more
europepmc   +1 more source

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México. [PDF]

Glob Pediatr Health
Torres-Sepúlveda MDR, Martínez de Villarreal LE, Villarreal-Pérez JZ, Ruiz Herrera MDC, Arredondo Vázquez PDC, Treviño-Morales AK.   +5 more
europepmc   +1 more source

Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias. [PDF]

Mol Genet Metab, 2022
Jerves T, Blau N, Ferreira CR.
europepmc   +1 more source

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review. [PDF]

Genes (Basel)
Barretta F, Uomo F, Verde A, Fisco M, Gallo G, Albano L, Crisci D, Mazzaccara C, Strisciuglio P, Ruoppolo M, Fecarotta S, Parenti G, Frisso G, Rossi A.   +13 more
europepmc   +1 more source

Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates. [PDF]

Ann Lab Med, 2023
Lee B, Heo WY, Kim JA, Lee HS, Hwang N, Park HD, Sung SI, Chang YS, Park WS, Lee SY.   +9 more
europepmc   +1 more source

Serotonin dysfunction in ADHD. [PDF]

J Neurodev Disord
Jackson EF, Riley TB, Overton PG.
europepmc   +1 more source

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes. [PDF]

Orphanet J Rare Dis
Vallejo M, Villarreal V, Guardiola MA, Bachiller W, Moreno M, Vargas P, López LJ.   +6 more
europepmc   +1 more source

The Effects of Prescribed Nitisinone (Orfadin) on the Anxiety Levels of Both FAH+/- and FAH -/- Mice [PDF]

, 2014
Zahran, Rayna Majdi
core   +1 more source

Validation of Clinical-Grade Electroporation Systems for CRISPR-Cas9-Mediated Gene Therapy in Primary Hepatocytes for the Correction of Inherited Metabolic Liver Disease. [PDF]

Cells
Gibson J, Dhungana A, Pokhrel M, Arthur B, Suresh P, Adebayo O, Cottle RN.   +6 more
europepmc   +1 more source