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Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis)

• Authors : Al-Shareef Ibraheem; Boustany Rose-Mary; El-Haddad Sariah

• Source: Emery and Rimoin's Essential Medical Genetics.

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Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

• Authors : Witeck, Camila da Rosa; Schmitz, Anne Calbusch; Dias de Oliveira, Júlia Meller

Subjects: GENETIC disorders; WOLMAN disease; LIPIDOSES

• Source: Jornal de Pediatria; Jan/Feb2022, Vol. 98 Issue 1, p4-14, 11p

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Wolman Disease

Subjects: Lipid metabolism; Wolman disease; Genetic disorders

• Source: The Encyclopedia of Genetic Disorders and Birth Defects, Third Edition. 2008, p394-394.

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Autophagy Is Dispensable for Macrophage-Mediated Lipid Homeostasis in Adipose Tissue.

• Authors : Grijalva, Ambar; Xiaoyuan Xu; Ferrante Jr., Anthony W.

Subjects: ADIPOSE tissues; MACROPHAGES; AUTOPHAGY

• Source: Diabetes; Apr2016, Vol. 65 Issue 4, p967-980, 14p, 7 Graphs

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Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

• Authors : Reynolds, Tim

Subjects: AUTOSOMAL recessive polycystic kidney; GENETIC disorders; RARE diseases

• Source: Journal of Clinical Pathology; Nov2013, Vol. 66 Issue 11, p918-923, 6p, 1 Diagram, 1 Chart

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Intragenic deletion as a novel type of mutation in Wolman disease

• Authors : Lee, Teresa M.¹; Welsh, Mariko²; Benhamed, Sonia³

Subjects: *GENETIC disorders; *GENETIC mutation; *LYSOSOMAL storage diseases

• Source: Molecular Genetics & Metabolism. Dec2011, Vol. 104 Issue 4, p703-705. 3p.

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Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications.

• Authors : Yanir, Asaf¹ ; Allatif, Mahmud Abed²; Weintraub, Michael¹

Subjects: *HEMATOPOIETIC stem cell transplantation; *GRAFT rejection; *LIVER diseases

• Source: Molecular Genetics & Metabolism. Jun2013, Vol. 109 Issue 2, p224-226. 3p.

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LSDDB: Lysosomal Storage Disorder Database for Lysosomal Proteins and Their Single Amino-Acid Substitutions.

• Authors : Paul, D. Meshach; Chandrasekhar, G.; Srinivasan, E.

Subjects: LYSOSOMAL storage diseases; MOLECULAR chaperones; GENETIC disorders

• Source: Journal of Computational Biophysics & Chemistry; Aug2023, Vol. 22 Issue 5, p589-603, 15p

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Evolving therapies in neuronopathic LSDs: opportunities and challenges.

• Authors : Rajan, Deepa S; Escolar, Maria L

Subjects: LYSOSOMAL storage diseases; THERAPEUTICS; GENETIC disorders

• Source: Metabolic Brain Disease; Oct2022, Vol. 37 Issue 7, p2245-2256, 12p

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Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years.

• Authors : Mogahed, Engy A. (AUTHOR); Sayed, Al-Hussien A. (AUTHOR); Khalifa, Sara E. (AUTHOR)

Subjects: JUVENILE diseases; FATTY liver; GLYCOGEN storage diseaseEGYPT

• Source: European Journal of Pediatrics. May2020, Vol. 179 Issue 5, p719-726. 8p. 1 Color Photograph, 3 Charts.

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