"Pseudodeficiencies" of lysosomal hydrolases.

"Pseudodeficiencies" of lysosomal hydrolases.

Item
http://www.wikidata.org/entity/Q35889203
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variantIdentification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type IMorquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseMetachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A geneMetachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsA pseudodeficiency allele (D152N) of the human beta-glucuronidase geneMolecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.Lysosomal storage disorders: molecular basis and laboratory testing.Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.
P2860

"Pseudodeficiencies" of lysosomal hydrolases.

Item
http://www.wikidata.org/entity/Q35889203
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
"Pseudodeficiencies" of lysosomal hydrolases.
@ast
"Pseudodeficiencies" of lysosomal hydrolases.
@en
type
label
"Pseudodeficiencies" of lysosomal hydrolases.
@ast
"Pseudodeficiencies" of lysosomal hydrolases.
@en
prefLabel
"Pseudodeficiencies" of lysosomal hydrolases.
@ast
"Pseudodeficiencies" of lysosomal hydrolases.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
"Pseudodeficiencies" of lysosomal hydrolases.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932