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Prenatal diagnosis of Wolman's disease.

  • Published:1976-02-01 Issue:1 Volume:13 Page:49-51
  • ISSN:1468-6244
  • Container-title:Journal of Medical Genetics
  • language:en
  • Short-container-title:Journal of Medical Genetics

Author:

Patrick A D,Willcox P,Stephens R,Kenyon V G

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Generalized xanthomatosis with calcified adrenals;Abramov, A.; Schorr, S.; Wolman, M.;American Journal of Diseases of Children,1956

2. A simple radioactive assay for triglyceride lipase;Kaplan, A.;Analytical Biochemistry,1970

3. Lipid studies in Wolman's disease;Kyriakides, E.C.; Filippone, N.; Paul, B.; Grattan, W.; Balint, J.A.;Pediatrics,1970

4. Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes;Lake, B.D.; Patrick, A.D.;Journal of Pediatrics,1970

5. Deficiency of an acid lipase in Wolman's disease;Patrick, A.D.; Lake, B.D.;Nature,1969

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1. Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency;Expert Opinion on Orphan Drugs;2022-10-12

2. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2021-04-20

3. Prenatal sonographic findings in a case of Wolman's disease;Journal of Clinical Ultrasound;2017-04-04

4. Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi;Methods in Molecular Biology;2017

5. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2015-11-23
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