PMC Articles for MedGen (Select 373113) - PMC

Select item 79029891.

Josef Finsterer, Wolfgang N. Löscher, Julia Wanschitz, Stefan Iglseder

J Neuromuscul Dis. 2021; 8(1): 1–23. Prepublished online 2020 Sep 22. Published online 2021 Jan 1. doi: 10.3233/JND-200518

PMCID:: PMC7902989

Abstract Article PDF–1.0M

Select item 73488492.

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases

Brianna M. Naumchik, Ashish Gupta, Heather Flanagan-Steet, Richard A. Steet, Sara S. Cathey, Paul J. Orchard, Troy C. Lund

Cells. 2020 Jun; 9(6): 1411. Published online 2020 Jun 5. doi: 10.3390/cells9061411

PMCID:: PMC7348849

Abstract Article PDF–300K

Select item 68866273.

A New Case of Schindler Disease

Ruben García Castro, Ana María González Pérez, María Concepción Román Curto, Javier Cañueto Álvarez, Alberto Conde Ferreirós, Alex Viñolas Cuadros, David Moyano Bueno, Antonio Javier Chamorro Fernández

Eur J Case Rep Intern Med. 2019; 6(11): 001269. Published online 2019 Oct 25. doi: 10.12890/2019_001269

PMCID:: PMC6886627

Abstract Article PDF–450K

Select item 56852034.

Lysosomal storage diseases

Carlos R. Ferreira, William A. Gahl

Transl Sci Rare Dis. 2017; 2(1-2): 1–71. Prepublished online 2016 Sep 28. Published online 2017 May 25. doi: 10.3233/TRD-160005

PMCID:: PMC5685203

Abstract Article PDF–9.8M

Select item 56451175.

Multiple exo-glycosidases in human serum as detected with the substrate DNP-α-GalNAc. I. A new assay for lysosomal α-N-acetylgalactosaminidase

Simon P.J. Albracht, Erik Allon, Johannes van Pelt

BBA Clin. 2017 Dec; 8: 84–89. Published online 2017 Oct 7. doi: 10.1016/j.bbacli.2017.10.001

PMCID:: PMC5645117

Abstract Article PDF–345K

Select item 27718596.

The 1.9 Å structure of human α-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases

Nathaniel E. Clark, Scott C. Garman

J Mol Biol. Author manuscript; available in PMC 2010 Oct 23.

Published in final edited form as: J Mol Biol. 2009 Oct 23; 393(2): 435–447. Published online 2009 Aug 14. doi: 10.1016/j.jmb.2009.08.021

PMCID:: PMC2771859

Abstract Article PDF–2.4M

Select item 10506307.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler, M J Coll, A Chabas, H Sakuraba, Y Suzuki, O P van Diggelen

J Med Genet. 1996 Jun; 33(6): 458–464. doi: 10.1136/jmg.33.6.458

PMCID:: PMC1050630

Summary Page Browse PDF–1.9M

Select item 2969298.

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

A M Wang, D Schindler, R Desnick

J Clin Invest. 1990 Nov; 86(5): 1752–1756. doi: 10.1172/JCI114901

PMCID:: PMC296929

Summary Page Browse PDF–1.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity