Results 101 to 110 of about 1,934 (207)

Multiplex Enzyme Assay for Galactosemia Using Ultraperformance Liquid Chromatography–Tandem Mass Spectrometry [PDF]

, 2010
Dae‐Hyun Ko, Sun-Hee Jun, Hyung‐Doo Park, Sang Hoon Song, Kyoung Un Park, Jin Q Kim, Young‐Han Song, Junghan Song   +7 more
openalex   +1 more source

Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life [PDF]

, 2021
Jennifer Friedman, Sara Lucas Del Pozo, David Moreno-Martínez, María Camprodon-Gómez, Daniel Moreno‐Martinez, Jorge Hernández‐Vara, Manju A. Kurian   +6 more
openalex   +1 more source

[¹³C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. [PDF]

JIMD Rep, 2021
Ficicioglu C, Demirbas D, Derks B, Pai GS, Timson DJ, Rubio-Gozalbo ME, Berry GT.   +6 more
europepmc   +1 more source

Etiología del retardo mental en la población pediátrica que asiste a consulta de neuropediatría en el Hospital Militar Central e Instituto de Ortopedia Infantil Roosevelt Bogotá, Colombia, 1 agosto 2009 - 31 de enero de 2011 [PDF]

, 2013
El retardo mental (RM) afecta entre 1 3% de la población mundial, impacta la vida de la persona que lo padece, su entorno familiar y tiene gran impacto en salud pública.
Cabarcas Castro, Lisseth
core  

SEROTONIN RECEPTORS, IV. SPECIFIC DEFICIENCY OF RECEPTORS IN GALACTOSE POISONING AND ITS POSSIBLE RELATIONSHIP TO THE IDIOCY OF GALACTOSEMIA

, 1964
D. W. Woolley, B. W. Gommi
openalex   +1 more source

Galactosemia Diagnosis Gets an Upgrade [PDF]

, 2010
Michael J. Bennett
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

Optimization of established and assessment of novel newborn screening strategies in the Netherlands [PDF]

, 2021
Stroek, K.
core  

Screening Test for Galactosemia

, 1994
Mei‐Hwei Chang, Ming‐Wei Lai
openalex   +1 more source

Psychosocial developmental milestones in men with classic galactosemia [PDF]

, 2011
Cynthia Sophia Gubbels, Heleen Maurice‐Stam, Gerard T. Berry, Annet M. Bosch, Susan E. Waisbren, Maria Estela Rubio‐Gozalbo, Martha A. Grootenhuis   +6 more
openalex   +1 more source