scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.BPG.2010.09.001 |
P953 | full work available at URL | https://api.elsevier.com/content/article/PII:S1521691810001101?httpAccept=text/xml |
https://api.elsevier.com/content/article/PII:S1521691810001101?httpAccept=text/plain | ||
P698 | PubMed publication ID | 20955964 |
P50 | author | Stephan Vom Dahl | Q112468528 |
Eugen Mengel | Q66764580 | ||
P2860 | cites work | Agalsidase-beta therapy for advanced Fabry disease: a randomized trial | Q79441627 |
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C | Q80260257 | ||
Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis | Q82780696 | ||
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease | Q24533551 | ||
Life expectancy in Gaucher disease type 1 | Q24631415 | ||
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. | Q33389419 | ||
Enzyme deficiency in cholesteryl ester storage idisease | Q34072516 | ||
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease | Q34082413 | ||
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease | Q34133643 | ||
Gaucher disease: pathological mechanisms and modern management | Q34556549 | ||
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease | Q34616002 | ||
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study | Q34661485 | ||
Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency | Q35200444 | ||
The cell biology of lysosomal storage disorders | Q35825859 | ||
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase | Q35844420 | ||
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations | Q36405317 | ||
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients | Q36538536 | ||
Therapy of adult Gaucher disease | Q36734350 | ||
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations | Q37204194 | ||
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. | Q37221766 | ||
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins | Q37362460 | ||
Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships | Q37594794 | ||
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience | Q39726002 | ||
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease | Q40600194 | ||
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. | Q42638927 | ||
Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice | Q44090127 | ||
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry | Q45179793 | ||
Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease | Q45870746 | ||
Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease | Q45872484 | ||
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene | Q46078301 | ||
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction muta | Q50515944 | ||
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. | Q50920816 | ||
Elevated plasma chitotriosidase activity in various lysosomal storage disorders. | Q51017309 | ||
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. | Q53912470 | ||
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology | Q73054235 | ||
Gaucher disease of the spleen: CT and MR findings | Q73818449 | ||
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease | Q79163597 | ||
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease | Q79219038 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | diagnosis | Q16644043 |
P304 | page(s) | 619-628 | |
P577 | publication date | 2010-10-01 | |
P1433 | published in | Best Practice and Research: Clinical Gastroenterology | Q15754316 |
P1476 | title | Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly | |
P478 | volume | 24 |
Q42226747 | A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells |
Q42784240 | A novel transgenic mouse model of lysosomal storage disorder |
Q33399972 | Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
Q64104342 | Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model |
Q64093310 | Hepatic and neuronal phenotype of NPC1−/− mice |
Q92862044 | Lysosomal acid lipase deficiency - early diagnosis is the key |
Q49519806 | Niemann-Pick disease type B: HRCT assessment of pulmonary involvement |
Q84215604 | PAS-positive macrophages--not always infection |
Search more.