Two Japanese cases with aspartylglycosaminuria: clinical and morphological features

Author:

Yoshida Kunihiro,Ikeda Shu-Ichi,Yanagisawa Nobuo,Yamauchi Toyoaki,Tsuji Shoji,Hirabayashi Yoshio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Aspartylglucosaminuria I: fine structural studies on liver, kidney and brain;Arstila;Acta Neuropath. (Berlin).,1972

2. Prenatal diagnosis and fetal pathology of aspartylglucosaminuria;Aula;Am. J. Med. Genet.,1984

3. Variation of urinary excretion of aspartylglucosamine and associated clinical findings in aspartylglucosaminuria;Aula;J. Inher. Metab. Dis.,1980

4. Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts;Aula;Humangenetik,1974

5. Aspartylglycosaminuria (AGU): further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients;Autio;Ann. Clin. Res.,1973

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1. Aspartylglucosaminuria: Clinical Presentation and Potential Therapies;Journal of Child Neurology;2021-01-13

2. Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan;Brain and Development;2017-05

3. Aspartylglucosaminuria;Journal of Child Neurology;2012-12-26

4. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Startle epilepsy complicating aspartylglucosaminuria;Brain and Development;2004-03

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