Results 151 to 160 of about 1,983 (198)

GALACTOSEMIA TYPE I: A CASE FROM PRACTICE

Андрей Васильевич Налетов, Наталия Александровна Марченко, Александра Ивановна Борискина, Дмитрий Иванович Масюта   +3 more
openalex   +2 more sources

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

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

, 2015
Ben Cocanougher, Umut Aypar, Amber McDonald, Linda Hasadsri, Michael J. Bennett, W. Edward Highsmith, Kristin D׳Aco   +6 more
openalex   +1 more source

Galactosemia [PDF]

, 2020
openaire   +1 more source

Copper Nanowires Immobilized on the Boards of Microfluidic Chips for the Rapid and Simultaneous Diagnosis of Galactosemia Diseases in Newborn Urine Samples

, 2013
Miguel García, J.R. Alonso Fernández, Alberto Escarpa   +2 more
openalex   +2 more sources

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

Análisis de aminoácidos en muestras biológicas impregnadas en papel de filtro por técnicas fluorimétricas. Aplicación a la detección precoz de errores congénitos del metabolismo [PDF]

, 2010
Lozano, J. A., Monserrat, F., Peñafiel, R., Solano, F.   +3 more
core   +2 more sources

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

[Galactosemia].

Revista chilena de pediatria, 1989
P, Herskovic, A, Harum, R, González, A, Moreno, G, Venegas, S, Asenjo, M, Colombo, E, Raimann   +7 more
openaire   +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