Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference12 articles.
1. Cultured amniotic fluid cells for prenatal diagnosis of lysosomal storage disorders: A methodological study
2. Culture conditions found to minimize false positive diagnosis of lysosomal storage disorders
3. Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV
4. , (1992). Lysosomal storage disorders among Jews. In: (Ed.). Genetic Diversity Among Jews, Oxford: Oxford University Press, 301–304.
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1. Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series;International Journal of Molecular Sciences;2020-06-26
2. TRPML1: The Ca(2+)retaker of the lysosome;Cell Calcium;2018-01
3. Systematic Screens for Proteins That Interact with the Mucolipidosis Type IV Protein TRPML1;PLoS ONE;2013-02-13
4. Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases;Cell Calcium;2011-08
5. Prenatal Diagnosis of Lysosomal Storage Diseases;Brain Pathology;2006-04-05
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