Results 111 to 120 of about 1,983 (198)

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. [PDF]

Biomolecules, 2022
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M.   +4 more
europepmc   +1 more source

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations [PDF]

, 2013
Rıza Köksal Özgül, Ayşegül Güzel-Ozantürk, Halil Dündar, Didem Yücel‐Yılmaz, Turgay Coşkun, Serap Sivri, Sultan Durmuş Aydoğdu, Ayşegül Tokatlı, Ali Dursun   +8 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, Melendreras F, Vázquez-Palazón A, Rausell D, Correcher P, González-Lamuño D, García-Peris M.   +6 more
europepmc   +1 more source

Congenital Galactosemia and Orotic Acid Therapy with Promising Results: Preliminary Report

, 1962
Keiya Tada, Zenichiro Kudo, Tadashi Ohno, Jinzo Akabane, Ryo Chiba   +4 more
openalex   +2 more sources

Positive classic galactosemia carrier status does not impact ovarian reserve [PDF]

, 2018
Teresa A. Cacchione, L. Sekhon, T.G. Nazem, Dmitry Gounko, J. Lee, L. Grunfeld, Alan B. Copperman   +6 more
openalex   +1 more source

Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil. [PDF]

Int J Neonatal Screen
Reis LC, Tonon T, Acosta MB, Castro SM, Coutinho VLS, Melo DG, Schwartz IVD.   +6 more
europepmc   +1 more source

Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases [PDF]

, 2012
Fiona M. Lewis, David Coman, Maryanne Syrmis, Sarah Kilcoyne, Bruce E. Murdoch   +4 more
openalex   +1 more source

Behavioural and emotional profile of children with galactosemia: comparative study with children with PKU [PDF]

, 2003
Liza Varvogli, Susan E. Waisbren
openalex   +1 more source

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report. [PDF]

BMC Infect Dis
Lin J, Wu J, Gong L, Li X, Wang G.
europepmc   +1 more source

The Importance of Neonatal Screening for Galactosemia. [PDF]

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