Results 51 to 60 of about 409 (95)

Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues. [PDF]

J Biol Methods, 2021
Brophy ML, Murphy JE, Bell RD.
europepmc   +1 more source

Newborn screening for galactosaemia. [PDF]

Cochrane Database Syst Rev, 2020
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R.   +4 more
europepmc   +1 more source

Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model. [PDF]

J Inherit Metab Dis, 2023
Druss JJ, Rudd Zhong Manis J, Potter NL, Fridovich-Keil JL.   +3 more
europepmc   +1 more source

The Beginnings of Neonatal Screening in Spain: The Initiative of the Instituto de Bioquímica Clínica in Barcelona (1969-1980) [PDF]

Trabajo de fin de grado. Grado en Medicina. Curso académico 2024-2025[ES]Introducción: El cribado neonatal se desarrolló durante la segunda mitad del siglo XX con el objetivo de obtener un diagnóstico precoz rentable de trastornos tratables en periodo ...
López Nieto, Beatriz
core  

Galactokinase deficiency: a treatable cause of bilateral cataracts. [PDF]

BMJ Case Rep, 2021
Cordeiro C, Garcia P, Coelho D, Oliva M.
europepmc   +1 more source

Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby. [PDF]

BMJ Case Rep, 2022
Blondel F, Pierron C, Scalais E, Becker M.   +3 more
europepmc   +1 more source

O impacto do teste do pezinho do SUS no diagnóstico precoce de doenças raras: uma revisão narrativa da literatura [PDF]

A Triagem Neonatal Brasileira é popularmente conhecida como “teste do pezinho”, este programa tem o objetivo de identificar distúrbios e doenças raras no recém-nascido em tempo oportuno, visando garantir uma intervenção adequada com tratamento e ...
Machado, Danielle Cristiane Correa de Paula, Martins, Maria Luiza Marques, Nunes, Jussara Carvalho, Soares, Jheniffer Lorrayne Caldas de Souza, Souza, Ana Carolina Moreira   +4 more
core   +1 more source

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience. [PDF]

Clin Case Rep
Alaee M, Saneifard H, Shakiba M, Hanifeh M, Moarefian S.   +4 more
europepmc   +1 more source

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. [PDF]

Int J Mol Sci, 2023
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C.   +15 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