Results 91 to 100 of about 306 (158)

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I. [PDF]

Nutrients, 2021
Daly A, Evans S, Pinto A, Ashmore C, MacDonald A.   +4 more
europepmc   +1 more source

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes. [PDF]

Int J Neonatal Screen
Jamaleddin T, El-Akouri K, Abiib S, Mitri R, Ramaswamy M, Musa S, Ali R, Shahbeck N, Al Rifai H, Abdoh G, Ben-Omran T, Al-Dirbashi OY, Al-Shafai M.   +12 more
europepmc   +1 more source

Emotional and behavioural functioning in children with tyrosinaemia type 1. [PDF]

Pediatr Endocrinol Diabetes Metab
Pohorecka M, Biernacki M, Jakubowska-Winecka A, Leszczynska-Iwanicka K, Rokicki D, Pokora P, Perkowska B, Pajdowska M, Biernacka M.   +8 more
europepmc   +1 more source

Treatment adherence in tyrosinemia type 1 patients. [PDF]

Orphanet J Rare Dis, 2021
González-Lamuño D, Sánchez-Pintos P, Andrade F, Couce ML, Aldámiz-Echevarría L.   +4 more
europepmc   +1 more source

Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi - A retrospective chart review. [PDF]

Pak J Med Sci
Kanani F, Shahid S, Sameer D, Maqsood S.
europepmc   +1 more source

Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria. [PDF]

Sci Rep, 2022
Ranganath LR, Milan AM, Hughes AT, Davison AS, M K, Norman BP, Bou-Gharios G, Gallagher JA, Imrich R, Arnoux JB, Rudebeck M, Olsson B.   +11 more
europepmc   +1 more source

[Tyrosinemia].

Revista chilena de pediatria, 1981
E, Saelzer, C, Norero, T, Young
openaire   +1 more source

Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study. [PDF]

Int J Mol Sci
Fuenzalida K, Leal-Witt MJ, Acevedo A, Muñoz M, Gudenschwager C, Arias C, Cabello JF, La Marca G, Rizzo C, Pietrobattista A, Spada M, Dionisi-Vici C, Cornejo V.   +12 more
europepmc   +1 more source

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma. [PDF]

Mol Genet Metab Rep, 2019
Hannah-Shmouni F, MacNeil L, Lara-Corrales I, Pope E, Kannu P, Sondheimer N.   +5 more
europepmc   +1 more source

Induced Liver Regeneration Enhances CRISPR/Cas9-Mediated Gene Repair in Tyrosinemia Type 1. [PDF]

Hum Gene Ther, 2021
Zhang QS, Tiyaboonchai A, Nygaard S, Baradar K, Major A, Balaji N, Grompe M.   +6 more
europepmc   +1 more source