Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby. [PDF]
BMJ Case Rep, 2022 Blondel F +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 +4 more
core +1 more source
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
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities [PDF]
, 2020 Mendy M. Welsink‐Karssies +10 more
openalex +1 more source
Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia [PDF]
, 2023 Vykuntaraju K. Gowda +2 more
openalex +1 more source
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study [PDF]
, 2014 Mary Ellen Lynch +3 more
openalex +1 more source
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study [PDF]
, 2015 Ina Knerr +9 more
openalex +1 more source
Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia. [PDF]
Nutrients, 2023 Vitoria I +6 more
europepmc +1 more source