Results 121 to 130 of about 1,300 (164)
FSH isoform pattern in classic galactosemia [PDF]
, 2010 Cynthia S. Gubbels +6 more
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Uus teadusdoktor Mari-Anne Vals [PDF]
, 2019 Eesti Arst 2019; 98(5 ...
toimetus, Eesti Arsti
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MoleculesPhosphomannomutase 2 (PMM2) catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate, a key step in the biosynthesis of GDP-mannose for N-glycosylation. Its deficiency is the most common cause of congenital disorders of glycosylation (
Bruno Hay Mele +4 more
doaj +1 more source
ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts [PDF]
Introduction The study of protein stability is crucial to biochemistry and relies on different methodologies. Recently, the Cellular Thermal Shift Assay has been introduced to study protein stability in whole cells.
Andreotti, Giuseppina +3 more
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Visual Impairment in the absence of ON-pathway signal [PDF]
, 2018 Congenital retinal diseases are a major cause of childhood and lifelong visual im- pairment. Such conditions can manifest a variable array of severe and subtle ef- fects on vision.
Fritsch, Dennis Manuel
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a quantitative study using the brief resilience coping scale (BRCS) [PDF]
Funding Information: We would like to express our deepest gratitude for the invaluable financial support received from collective donations made by families affected by CDG and professionals in the field.
dos Reis Ferreira, Vanessa +3 more
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Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence. [PDF]
Front Pediatr, 2021 Serrano M.
europepmc +1 more source
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). [PDF]
Cerebellum, 2021 Pettinato F +19 more
europepmc +1 more source
Badania kliniczne i podstawowe nad inhibitorami reduktazy aldozowej we wrodzonych zaburzeniach glikozylacji [PDF]
, 2023 Ligęzka, Anna
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