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A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
Chabás A, Duque J, Gort L. Chabás A, et al. J Inherit Metab Dis. 2007 Feb;30(1):108. doi: 10.1007/s10545-006-0470-1. Epub 2006 Dec 14. J Inherit Metab Dis. 2007. PMID: 17171432
alpha-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms. ...
alpha-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and …
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG. Hagemeijer MC, et al. J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28. J Inherit Metab Dis. 2023. PMID: 36752951
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, sialidosis, galactosialidosis, fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, GM2 gangliosidosis (M. ...
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase …
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.
Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E. Chabás A, et al. J Inherit Metab Dis. 1994;17(6):724-31. doi: 10.1007/BF00712015. J Inherit Metab Dis. 1994. PMID: 7707696
Two adult siblings with an alpha-N-acetylgalactosaminidase deficiency are described. The patients' major features are massive lymphoedema and angiokeratoma corporis diffusum. ...The bands were identified as sialyloligosaccharides, and gas chromatograph …
Two adult siblings with an alpha-N-acetylgalactosaminidase deficiency are described. The patients' major feature …
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies.
Kanzaki T, Yokota M, Irie F, Hirabayashi Y, Wang AM, Desnick RJ. Kanzaki T, et al. Arch Dermatol. 1993 Apr;129(4):460-5. Arch Dermatol. 1993. PMID: 8466216
CONCLUSIONS: Since this enzyme deficiency was previously identified in patients with an infantile form of inherited neuroaxonal dystrophy, the occurrence of the enzymopathy in the 46-year-old proband described herein represents an adult-onset form of alpha-N-acet …
CONCLUSIONS: Since this enzyme deficiency was previously identified in patients with an infantile form of inherited neuroaxonal dystrophy, t …
Neurologic manifestations of Kanzaki disease.
Umehara F, Matsumuro K, Kurono Y, Arimura K, Osame M, Kanzaki T. Umehara F, et al. Neurology. 2004 May 11;62(9):1604-6. doi: 10.1212/01.wnl.0000123116.96441.34. Neurology. 2004. PMID: 15136691
We describe the neurologic findings in a patient with alpha-N-acetylgalactosaminidase deficiency (Kanzaki disease). Clinical and electrophysiologic studies revealed sensory-motor polyneuropathy, and sural nerve pathology showed decreased density of mye …
We describe the neurologic findings in a patient with alpha-N-acetylgalactosaminidase deficiency (Kanzaki diseas …
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