Results 81 to 90 of about 368 (102)

Health and well-being of maturing adults with classic galactosemia. [PDF]

J Inherit Metab Dis
Garrett OS, Druss JJ, Vos EN, Fu YD, Lucia S, Greenstein PE, Bauer A, Sykut-Cegielska J, Stepien KM, Arbuckle C, Grafakou O, Meyer U, Vanhoutvin N, Pané A, Bosch AM, Rubio-Gozalbo E, Berry GT, Fridovich-Keil JL.   +17 more
europepmc   +1 more source

Diagnosing the oil drop: A case report and review of the literature.

Indian J Ophthalmol, 2019
Chhapan RJ, Yerramneni R, Ramappa M.
europepmc   +1 more source

A GC-MS-based untargeted metabolomics approach for comprehensive metabolic profiling of mycophenolate mofetil-induced toxicity in mice. [PDF]

Front Mol Biosci
Zhao T, Zhao Y, Chen H, Sun W, Guan Y.
europepmc   +1 more source

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening. [PDF]

Genes (Basel)
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W, Oliveira ASB, Breinis P, Morita MDPA, França MC.   +10 more
europepmc   +1 more source

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]

Orphanet J Rare Dis
Couce ML, Bóveda MD, Castiñeiras DE, Vázquez-Mosquera ME, Barbosa-Gouveia S, De Castro MJ, Iglesias-Rodríguez AJ, Colón C, Cocho JA, Sánchez P.   +9 more
europepmc   +1 more source

Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia. [PDF]

Clin Transl Med
Kavarthapu R, Lou H, Pham T, Do H, Soliman ME, Badger T, Balasubramanian R, Huyhn V, De La Luz Sierra M, Yano Maher JC, Gomez-Lobo V.   +10 more
europepmc   +1 more source

Human UDP-Galactose 4′ Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients with Epimerase-Deficiency Galactosemia

Molecular Genetics and Metabolism, 1998
The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase ...
Bruno Dallapiccola, Giuseppe Novelli, Richard P Allen   +2 more
exaly   +2 more sources

GALACTOSEMIAS 271.1 (Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactokinase Deficiency, Galactose-6-Phosphate Epimerase Deficiency)

, 2008
Deborah M. Alcorn
exaly   +2 more sources

Transferase and epimerase galactosemias are metabolically distinct disorders

FASEB Journal, 2006
Judith L Fridovich-Keil
exaly  

Newborn Screening

Critical Reviews in Clinical Laboratory Sciences, 2009
Inderneel Sahai, Deborah Marsden
exaly