Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy-Reference-Cited by-同舟云学术

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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

Published:2019-08-14 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Cohen Jennifer L.,Burfield Jessica,Valdez-Gonzalez Karen,Samuels Angela,Stefanatos Arianna K.,Yudkoff Marc,Pedro Helio,Ficicioglu Can

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1129-y.pdf

Reference18 articles.

1. Young EP, Patrick AD. Deficiency of acid esterase activity in Wolman's disease. Arch Dis Child. 1970;45(243):664–8.

2. Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genetics in medicine : official journal of the American College of Medical Genetics. 2016;18(5):452–8.

3. Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007;166(7):663–6.

4. Yanir A, Allatif MA, Weintraub M, Stepensky P. Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab. 2013;109(2):224–6.

5. Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 2009;43(1):21–7.

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1. Clinical guidelines for the management of children with lysosomal acid lipase deficiency;Pediatric pharmacology;2023-08-22

2. Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases;Biomedicines;2023-04-01

3. Enzyme-Responsive Materials: Properties, Design, and Applications;ACS Symposium Series;2023-03-17

4. Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five;Canadian Liver Journal;2022-08-01

5. Lysosomal acid lipase deficiency in pediatric patients: a scoping review;Jornal de Pediatria;2022-01

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