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Items: 3

1.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R.

Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860.

PMID:
28370531
2.

A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

Huynh T, Khan JM, Ranganathan S.

BMC Genomics. 2011 Nov 30;12 Suppl 3:S22. doi: 10.1186/1471-2164-12-S3-S22. Epub 2011 Nov 30.

3.

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

Sabourdy F, Labauge P, Stensland HM, Nieto M, Garcés VL, Renard D, Castelnovo G, de Champfleur N, Levade T.

BMC Med Genet. 2009 Sep 3;10:84. doi: 10.1186/1471-2350-10-84.

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