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Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairmentTargeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs diseaseHigh-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.Cell lineage in the developing neural tube.Role of prosaposin in the male reproductive system: effect of prosaposin inactivation on the testis, epididymis, prostate, and seminal vesicles.Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.Methionine oxidation within the cerebroside-sulfate activator protein (CSAct or Saposin B).My journey into the world of sphingolipids and sphingolipidoses.Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease.The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.Primary bone marrow mesenchymal stromal cells rescue the axonal phenotype of Twitcher mice.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1991
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Biochemical basis of late-onset neurolipidoses.
@en
Biochemical basis of late-onset neurolipidoses.
@nl
type
label
Biochemical basis of late-onset neurolipidoses.
@en
Biochemical basis of late-onset neurolipidoses.
@nl
prefLabel
Biochemical basis of late-onset neurolipidoses.
@en
Biochemical basis of late-onset neurolipidoses.
@nl
P356
P1476
Biochemical basis of late-onset neurolipidoses.
@en
P2093
Conzelmann E
Sandhoff K
P304
P356
10.1159/000112160
P577
1991-01-01T00:00:00Z