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References

These sources were used to develop the Genetics Home Reference gene summary on the PSAP gene.

Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M. Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. J Child Neurol. 2009 Dec;24(12):1513-9. doi: 10.1177/0883073809341269. Review. PubMed citation
Basic Neurochemistry (sixth edition, 1999): Lysosomal Disease
Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. Eur J Paediatr Neurol. 2008 Jan;12(1):46-50. Epub 2007 Jul 5. PubMed citation
Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet. 2005 Jul;117(2-3):275-7. Epub 2005 Apr 23. PubMed citation
Entrez Gene
Essentials of Glycobiology (first edition, 1999): Glycosphingolipid Degradation
Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat. 2008 Nov;29(11):E220-30. doi: 10.1002/humu.20851. PubMed citation
OMIM: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM: PROSAPOSIN
Szymańska K, Ługowska A, Laure-Kamionowska M, Bekiesińska-Figatowska M, Gieruszczak-Białek D, Musielak M, Eichler S, Giese AK, Rolfs A. Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. Folia Neuropathol. 2012;50(4):346-56. PubMed citation
Tamargo RJ, Velayati A, Goldin E, Sidransky E. The role of saposin C in Gaucher disease. Mol Genet Metab. 2012 Jul;106(3):257-63. doi: 10.1016/j.ymgme.2012.04.024. Epub 2012 May 5. Review. PubMed citation


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