about
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineNiemann-Pick disease type CFabry disease: recent advances in pathology, diagnosis, treatment and monitoringEnzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type IEnzyme replacement therapy with galsulfase for mucopolysaccharidosis type VIEnzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)Enzyme replacement and substrate reduction therapy for Gaucher diseaseEnzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type IEnzyme replacement therapy with galsulfase for mucopolysaccharidosis type VIEnzyme replacement therapy for Anderson-Fabry diseaseEnzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)Enzyme replacement and substrate reduction therapy for Gaucher diseaseEnzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type IEnzyme replacement therapy with laronidase (Aldurazyme ® ) for treating mucopolysaccharidosis type IEnzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)Enzyme replacement therapy for Anderson-Fabry diseaseEnzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type CDisruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout miceIdentification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseImiglucerase in the treatment of Gaucher disease: a history and perspectiveThe pathogenesis of Niemann-Pick type C disease: a role for autophagy?Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry diseaseClinical course of sly syndrome (mucopolysaccharidosis type VII)Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C diseaseEnzyme replacement therapy for Anderson-Fabry diseaseUnderstanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosisRethinking fatigue in Gaucher diseaseCystinosis: a reviewMoving towards effective therapeutic strategies for Neuronal Ceroid LipofuscinosisTargeted approaches to induce immune tolerance for Pompe disease therapySanfilippo syndrome: causes, consequences, and treatmentsDysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustatDrug induced phospholipidosis: an acquired lysosomal storage disorderEmerging novel concept of chaperone therapies for protein misfolding diseasesGenetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CSleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialistNewborn screening and diagnosis of mucopolysaccharidosesMice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Prevalence of lysosomal storage disorders.
@ast
Prevalence of lysosomal storage disorders.
@en
Prevalence of lysosomal storage disorders.
@nl
type
label
Prevalence of lysosomal storage disorders.
@ast
Prevalence of lysosomal storage disorders.
@en
Prevalence of lysosomal storage disorders.
@nl
prefLabel
Prevalence of lysosomal storage disorders.
@ast
Prevalence of lysosomal storage disorders.
@en
Prevalence of lysosomal storage disorders.
@nl
P2093
P356
P1476
Prevalence of lysosomal storage disorders.
@en
P2093
A E Clague
J J Hopwood
P J Meikle
P304
P356
10.1001/JAMA.281.3.249
P407
P577
1999-01-01T00:00:00Z