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References

These sources were used to develop the Genetics Home Reference condition summary on Schindler disease.

Blanchon YC, Gay C, Gibert G, Lauras B. A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism. J Autism Dev Disord. 2002 Apr;32(2):145-6. PubMed citation
Chabás A, Duque J, Gort L. A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom. J Inherit Metab Dis. 2007 Feb;30(1):108. Epub 2006 Dec 14. PubMed citation
Clark NE, Garman SC. The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. J Mol Biol. 2009 Oct 23;393(2):435-47. doi: 10.1016/j.jmb.2009.08.021. Epub 2009 Aug 14. PubMed citation
Desnick RJ, Wang AM. Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. J Inherit Metab Dis. 1990;13(4):549-59. Review. PubMed citation
Kanda A, Tsuyama S, Murata F, Kodama K, Hirabayashi Y, Kanzaki T. Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci. 2002 May;29(1):42-8. PubMed citation
Kanekura T, Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Hirabayashi Y, Yoshii N, Fukushige T, Kanzaki T. Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15-20. Epub 2004 Dec 8. PubMed citation
Kanzaki T, Yokota M, Irie F, Hirabayashi Y, Wang AM, Desnick RJ. Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. Arch Dermatol. 1993 Apr;129(4):460-5. PubMed citation
Kodama K, Kobayashi H, Abe R, Ohkawara A, Yoshii N, Yotsumoto S, Fukushige T, Nagatsuka Y, Hirabayashi Y, Kanzaki T. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. Br J Dermatol. 2001 Feb;144(2):363-8. PubMed citation
Michalski JC, Klein A. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. Review. PubMed citation
Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T. Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). J Hum Genet. 2004;49(1):1-8. Epub 2003 Dec 19. PubMed citation
Umehara F, Matsumuro K, Kurono Y, Arimura K, Osame M, Kanzaki T. Neurologic manifestations of Kanzaki disease. Neurology. 2004 May 11;62(9):1604-6. PubMed citation


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