Publications by authors named "Yasmina Amraoui"

11Publications

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.

Mol Genet Metab Rep 2020 Jun 8;23:100586. Epub 2020 Apr 8.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Department of Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149402PMC
June 2020

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

J Pediatr 2019 12;215:152-157.e3

Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.016DOI Listing
December 2019

Retinal and optic nerve degeneration in α-mannosidosis.

Orphanet J Rare Dis 2018 06 1;13(1):88. Epub 2018 Jun 1.

Department of Ophthalmology, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0829-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984778PMC
June 2018

Acetyl-dl-leucine in Niemann-Pick type C: A case series.

Neurology 2015 Oct 23;85(16):1368-75. Epub 2015 Sep 23.

From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.

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http://www.neurology.org/content/85/16/1368.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000204
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http://dx.doi.org/10.1212/WNL.0000000000002041DOI Listing
October 2015

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Orphanet J Rare Dis 2015 Jun 6;10:70. Epub 2015 Jun 6.

Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1186/s13023-015-0286-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465300PMC
June 2015