Malattia di Schindler (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Malattia di Schindler" in Italian language version.

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Wang AM, Schindler D, Desnick R, Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy, in J. Clin. Invest., vol. 86, n. 5, novembre 1990, pp. 1752–6, DOI:10.1172/JCI114901, PMC 296929, PMID 2243144.
Rudolf J, Grond M, Schindler D, Heiss WD, Desnick RJ, Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy, in J. Child Neurol., vol. 14, n. 8, agosto 1999, pp. 543–7, PMID 10456768.
Asfaw B, Ledvinová J, Dobrovolńy R, et al., Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases, in J. Lipid Res., vol. 43, n. 7, luglio 2002, pp. 1096–104, PMID 12091494.
Kodama K, Kobayashi H, Abe R, et al., A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation, in Br. J. Dermatol., vol. 144, n. 2, febbraio 2001, pp. 363–8, PMID 11251574.
Kodama K, Kobayashi H, Abe R,et al., A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation, in Br. J. Dermatol., vol. 144, n. 2, febbraio 2001, pp. 363–8, PMID 11251574.
Horiuchi M, Fukushige T, Saheki T, Kanzaki T, Improved matrix-assisted laser desorption/ionization time-of-flight mass spectrometric method for identification of amino acid O-glycosides in patients with alpha-N-acetylgalactosaminidase deficiency, in Clin. Chem., vol. 48, n. 10, ottobre 2002, pp. 1798–9, PMID 12324503.

doi.org

dx.doi.org

Wang AM, Schindler D, Desnick R, Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy, in J. Clin. Invest., vol. 86, n. 5, novembre 1990, pp. 1752–6, DOI:10.1172/JCI114901, PMC 296929, PMID 2243144.
Clark NE, Garman SC, The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases, in J. Mol. Biol., vol. 393, n. 2, ottobre 2009, pp. 435–47, DOI:10.1016/j.jmb.2009.08.021, PMC 2771859, PMID 19683538.
Sakuraba H, Matsuzawa F, Aikawa S, et al., Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease), in J. Hum. Genet., vol. 49, n. 1, 2004, pp. 1–8, DOI:10.1007/s10038-003-0098-z, PMID 14685826.

nih.gov

ncbi.nlm.nih.gov

Wang AM, Schindler D, Desnick R, Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy, in J. Clin. Invest., vol. 86, n. 5, novembre 1990, pp. 1752–6, DOI:10.1172/JCI114901, PMC 296929, PMID 2243144.
Herrmann T, Schindler D, Tabe H, et al., Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene, in Gene, vol. 211, n. 2, maggio 1998, pp. 205–14, PMID 9602128.
Rudolf J, Grond M, Schindler D, Heiss WD, Desnick RJ, Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy, in J. Child Neurol., vol. 14, n. 8, agosto 1999, pp. 543–7, PMID 10456768.
Asfaw B, Ledvinová J, Dobrovolńy R, et al., Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases, in J. Lipid Res., vol. 43, n. 7, luglio 2002, pp. 1096–104, PMID 12091494.
T. Kanzaki u. a.: Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. In: Lancet 1, 1989, S. 875–876. PMID 2564952
T. Kanzaki u. a.: Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. In: J. Clin. Invest. 88, 1991, S. 707–711. PMID 1907616
Clark NE, Garman SC, The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases, in J. Mol. Biol., vol. 393, n. 2, ottobre 2009, pp. 435–47, DOI:10.1016/j.jmb.2009.08.021, PMC 2771859, PMID 19683538.
Sakuraba H, Matsuzawa F, Aikawa S, et al., Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease), in J. Hum. Genet., vol. 49, n. 1, 2004, pp. 1–8, DOI:10.1007/s10038-003-0098-z, PMID 14685826.
Kodama K, Kobayashi H, Abe R, et al., A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation, in Br. J. Dermatol., vol. 144, n. 2, febbraio 2001, pp. 363–8, PMID 11251574.
Kodama K, Kobayashi H, Abe R,et al., A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation, in Br. J. Dermatol., vol. 144, n. 2, febbraio 2001, pp. 363–8, PMID 11251574.
Umehara F, Matsumuro K, Kurono Y, Arimura K, Osame M, Kanzaki T, Neurologic manifestations of Kanzaki disease, in Neurology, vol. 62, n. 9, maggio 2004, pp. 1604–6, PMID 15136691.
Horiuchi M, Fukushige T, Saheki T, Kanzaki T, Improved matrix-assisted laser desorption/ionization time-of-flight mass spectrometric method for identification of amino acid O-glycosides in patients with alpha-N-acetylgalactosaminidase deficiency, in Clin. Chem., vol. 48, n. 10, ottobre 2002, pp. 1798–9, PMID 12324503.

oadoi.org

Sakuraba H, Matsuzawa F, Aikawa S, et al., Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease), in J. Hum. Genet., vol. 49, n. 1, 2004, pp. 1–8, DOI:10.1007/s10038-003-0098-z, PMID 14685826.

orpha.net

Orphanet: Deficit di alfa N acetilgalattosaminidasi tipo 1 Malattia di Schindler tipo 1, su orpha.net.