Results 91 to 100 of about 1,603 (150)

FSH isoform pattern in classic galactosemia [PDF]

, 2010
Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo   +6 more
core   +1 more source

An atypical carbohydrate deficient glycoprotein (CDG) syndrome patient in South Africa [PDF]

, 2016
No ...
du Plessis, JA, Erasmus, E, Knoll, DP, Lippert, MM, Mienie, LJ, Pretorius, PJ, van der Westhuizen, FH   +6 more
core   +1 more source

an updated review [PDF]

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This work received financial support from the European Commission through the GLYCOTwinning project (Grant Pascoal et al.
Barbosa, Mariana, Coelho, Helena, dos Reis Ferreira, Vanessa, Francisco, Rita, Granjo, Pedro, Mexia, Patrícia, Pascoal, Carlota, Pereira, Beatriz Luís, Videira, Paula Alexandra   +8 more
core   +1 more source

Systematic review of autosomal recessive ataxias and proposal for a classification [PDF]

, 2017
Christopher J. Klein, Guy A. Rouleau, Marie Beaudin, Nicolas Dupré   +3 more
core   +1 more source

Epistasis in glycosylation proteins - impact on Congenital Disorders of Glycosylation [PDF]

, 2023
Maria Dulce da Silva Quelhas
core  

Badania kliniczne i podstawowe nad inhibitorami reduktazy aldozowej we wrodzonych zaburzeniach glikozylacji [PDF]

, 2023
Ligęzka, Anna
core  

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement [PDF]

core   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders. [PDF]

Glob Med Genet, 2023
Finsterer J.
europepmc   +1 more source