Literature DB >> 12022293

Progressive nature of aspartylglucosaminuria.

P Arvio1, M Arvio.   

Abstract

UNLABELLED: Descriptions of the outcome of aspartylglucosaminuria (AGU) were analysed, and a comprehensive summary table of symptoms and signs by age was designed.
CONCLUSION: The multifarious progressive nature of AGU is obvious in the skills and abilities of patients, as well as in their personality, general health and physical appearance.

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Year:  2002        PMID: 12022293     DOI: 10.1080/08035250252833842

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN: 0803-5253            Impact factor:   2.299


  10 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.

Authors:  Niki Lindblom; Satu Kivinen; Hannu Heiskala; Maija-Liisa Laakso; Markus Kaski
Journal:  J Inherit Metab Dis       Date:  2006-08-30       Impact factor: 4.982

3.  White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.

Authors:  Tokola Anna; Brandstack Nina; Hakkarainen Antti; Salli Eero; Åberg Laura; Autti Taina
Journal:  JIMD Rep       Date:  2017-02-10

4.  Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria.

Authors:  A Tokola; M Laine; R Tikkanen; T Autti
Journal:  AJNR Am J Neuroradiol       Date:  2019-10-24       Impact factor: 3.825

5.  Association between macroorchidism and intelligence in FMR1 premutation carriers.

Authors:  Reymundo Lozano; Scott Summers; Cristina Lozano; Yi Mu; David Hessl; Danh Nguyen; Flora Tassone; Randi Hagerman
Journal:  Am J Med Genet A       Date:  2014-06-05       Impact factor: 2.802

6.  Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.

Authors:  Ayşe Kartal; Kürşad Aydın
Journal:  Neuroradiol J       Date:  2016-08-22

7.  Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.

Authors:  Suchita Pande; William Bizilj; Hwai-Chen Guo
Journal:  FEBS Lett       Date:  2018-07-23       Impact factor: 4.124

Review 8.  Aspartylglycosaminuria: a review.

Authors:  Maria Arvio; Ilkka Mononen
Journal:  Orphanet J Rare Dis       Date:  2016-12-01       Impact factor: 4.123

9.  Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.

Authors:  Xin Chen; Sarah Snanoudj-Verber; Laura Pollard; Yuhui Hu; Sara S Cathey; Ritva Tikkanen; Steven J Gray
Journal:  Mol Ther       Date:  2020-11-11       Impact factor: 11.454

Review 10.  Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Authors:  Tomáš Zárybnický; Anne Heikkinen; Salla M Kangas; Marika Karikoski; Guillermo Antonio Martínez-Nieto; Miia H Salo; Johanna Uusimaa; Reetta Vuolteenaho; Reetta Hinttala; Petra Sipilä; Satu Kuure
Journal:  Cells       Date:  2021-11-13       Impact factor: 6.600

  10 in total

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