Results 101 to 110 of about 1,983 (198)

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

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  

Anxiety and stress in parents as well as the burden of raising a child with classical galactosemia [PDF]

Amanda Krzywdzińska, Aleksandra Gozdanek, Anna Bauer, Barbara Radomyska, Kamil K. Hozyasz   +4 more
openalex   +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

Referee report. For: Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia [version 3; peer review: 2 approved with reservations]

, 2020
Shelley L. Velleman, Claudia Abbiati
openalex   +1 more source

Molecular Basis for Severe Epimerase Deficiency Galactosemia [PDF]

, 2001
James B. Thoden, Travis M. Wohlers, Judith L. Fridovich‐Keil, Hazel M. Holden   +3 more
openalex   +1 more source

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities [PDF]

, 2020
Mendy M. Welsink‐Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmée Oussoren, M. Estela Rubio‐Gozalbo, Maaike C. de Vries, Gert J. Geurtsen, Annet M. Bosch   +10 more
openalex   +1 more source

Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. [PDF]

Mol Genet Metab, 2023
Stettner NM, Cutler DJ, Fridovich-Keil JL.   +2 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

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