Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy ; volume:14 ; number:1 ; day:14 ; month:8 ; year:2019 ; pages:1-8 ; date:12.2019
Orphanet journal of rare diseases ; 14, Heft 1 (14.8.2019), 1-8, 12.2019
- Creator
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Cohen, Jennifer L.
Burfield, Jessica
Valdez-Gonzalez, Karen
Samuels, Angela
Stefanatos, Arianna K.
Yudkoff, Marc
Pedro, Helio
Ficicioglu, Can
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13023-019-1129-y
- URN
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urn:nbn:de:101:1-2020010100281576914619
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 11:01 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Cohen, Jennifer L.
- Burfield, Jessica
- Valdez-Gonzalez, Karen
- Samuels, Angela
- Stefanatos, Arianna K.
- Yudkoff, Marc
- Pedro, Helio
- Ficicioglu, Can
- SpringerLink (Online service)
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Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
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Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
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Improving enzyme replacement therapy for lysosomal storage diseases
N-terminal domain replacement changes an archaeal monoacylglycerol lipase into a triacylglycerol lipase
The lysosomal storage disease fucosidosis: towards enzyme replacement therapy
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
A systematic review of the economic evaluations of Enzyme Replacement Therapy in Lysosomal Storage Diseases
Engineering synthetic and recombinant human lysosomal β-glucocerebrosidase for enzyme replacement therapy for Gaucher disease
Hepatosteatosis from Lysosomal Acid Lipase Deficiency
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
Lysosomal acid lipase regulates VLDL synthesis and insulin sensitivity in mice
Improving enzyme replacement therapy for lysosomal storage diseases
N-terminal domain replacement changes an archaeal monoacylglycerol lipase into a triacylglycerol lipase
The lysosomal storage disease fucosidosis: towards enzyme replacement therapy
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
A systematic review of the economic evaluations of Enzyme Replacement Therapy in Lysosomal Storage Diseases