Results 131 to 140 of about 1,983 (198)

Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia

, 2010
Lawrence D. Shriberg, Nancy L. Potter, Edythe A. Strand   +2 more
openalex   +2 more sources

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model [PDF]

, 2017
Ana I. Coelho, Jörgen Bierau, Martijn Lindhout, Juul Achten, Boris W. Kramer, M. Estela Rubio‐Gozalbo   +5 more
openalex   +1 more source

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. [PDF]

BMC Pediatr
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML.   +9 more
europepmc   +1 more source

Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia. [PDF]

BMJ Case Rep, 2021
Khoury B, Shakir MK, Hoang TD.
europepmc   +1 more source

Epalrestat Alleviates Reactive Oxygen Species and Endoplasmic Reticulum Stress by Maintaining Glycosylation in IMS32 Schwann Cells Under Exposure to Galactosemic Conditions. [PDF]

Int J Mol Sci
Yako H, Niimi N, Takaku S, Yamauchi J, Sango K.   +4 more
europepmc   +1 more source

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan. [PDF]

Int J Neonatal Screen, 2021
Kikuchi A, Wada Y, Ohura T, Kure S.
europepmc   +1 more source

Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial. [PDF]

Orphanet J Rare Dis
Randall JA, Sutter C, Wang S, Bailey E, Raither L, Perfetti R, Shendelman S, Burbridge C.   +7 more
europepmc   +1 more source

Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study. [PDF]

Int J Mol Sci
Scafuri B, Piscosquito S, Giliberti G, Facchiano A, Miner J, Balakrishnan B, Lai K, Marabotti A.   +7 more
europepmc   +1 more source

Urinary Galactonate in Patients with Galactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy [PDF]

, 1997
Suzanne Wehrli, Gerard T. Berry, Michael Palmieri, Alice Mazur, Louis J. Elsas, Stanton Segal   +5 more
openalex   +1 more source

Newborn screening for galactosaemia. [PDF]

Cochrane Database Syst Rev, 2017
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R.   +4 more
europepmc   +1 more source