Results 81 to 90 of about 870 (139)

The Importance of Neonatal Screening for Galactosemia. [PDF]

Nutrients, 2022
Badiu Tișa I, Achim AC, Cozma-Petruț A.   +2 more
europepmc   +1 more source

Molecular characterization of novel and rare DNA variants in patients with galactosemia. [PDF]

Front Genet, 2023
Maroulis V, Agathangelidis A, Skouma A, Sdogou T, Papadakis MN, Papakonstantinou E, Girginoudis P, Vorgias CE, Aleporou V, Kollia P.   +9 more
europepmc   +1 more source

Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia. [PDF]

J Clin Immunol
Kristal E, Khalaila A, Asleh M, Quider AA, Eshel YD, Mahdi NE, Hadad N, Almashanu S, Miskin H, Staretz-Chacham O, Ben-Harosh M.   +10 more
europepmc   +1 more source

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population. [PDF]

Front Pediatr
Shafique K, Raza A, Naushad A, Hussain F, Walid D, Wareth L, El-Hattab AW, Bedair RN, Al Dweik R, Sadier NS.   +9 more
europepmc   +1 more source

Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program. [PDF]

Acta Med Philipp
Orteza MEV, Abacan MAR.
europepmc   +1 more source

Galactose tolerance in adults with classical galactosaemia. Considering the gaps. [PDF]

Mol Genet Metab Rep
Shakerdi LA, Thacker CN, Moore K, Sheerin A, Noga M, Rubio-Gozalbo ME, Berry GT, O'Byrne JJ, Saldova R, Treacy EP.   +9 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Single-cell transcriptomics reveals mechanisms of <i>Galt</i> gene editing-induced liver injury involving HGF-VEGF-mediated intercellular signaling in mice. [PDF]

Front Cell Dev Biol
Li Z, Wang N, Ruan H, Li Q, Zhang X, Liu N, Li Y, Gu L, Yue P, Yu H.   +9 more
europepmc   +1 more source

Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document. [PDF]

Mol Genet Metab Rep
Robertson L, Tapley S, Sparks A, McDonald J, Condie E, Bailey S.   +5 more
europepmc   +1 more source

Rethinking Newborn Screening: A Case of GALM Deficiency. [PDF]

Int J Neonatal Screen
van Konijnenburg EMMH, Radenkovic S, Koop K, Prinsen HCMT, de Sain-van der Velden M.   +4 more
europepmc   +1 more source