Literature DB >> 8558570

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

M A Kroos, M Van der Kraan, O P Van Diggelen, W J Kleijer, A J Reuser, M J Van den Boogaard, M G Ausems, H K Ploos van Amstel, L Poenaru, M Nicolino.   

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Year:  1995        PMID： 8558570      PMCID： PMC1051720          DOI： 10.1136/jmg.32.10.836-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).

Authors:  C R Newton; A Graham; L E Heptinstall; S J Powell; C Summers; N Kalsheker; J C Smith; A F Markham
Journal:  Nucleic Acids Res       Date:  1989-04-11       Impact factor: 16.971

2.  Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.

Authors:  M Van der Kraan; M A Kroos; M Joosse; A G Bijvoet; M P Verbeet; W J Kleijer; A J Reuser
Journal:  Biochem Biophys Res Commun       Date:  1994-09-30       Impact factor: 3.575

3.  A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

Authors:  M L Huie; A S Chen; S S Brooks; A Grix; R Hirschhorn
Journal:  Hum Mol Genet       Date:  1994-07       Impact factor: 6.150

4.  The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

Authors:  M M Hermans; E De Graaff; M A Kroos; S Mohkamsing; B J Eussen; M Joosse; R Willemsen; W J Kleijer; B A Oostra; A J Reuser
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150

5.  Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

Authors:  M L Huie; A S Chen; S Tsujino; S Shanske; S DiMauro; A G Engel; R Hirschhorn
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150
  5 in total
  21 in total

1.  Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Authors:  P R Joshi; D Gläser; S Schmidt; M Vorgerd; M Winterholler; K Eger; S Zierz; M Deschauer
Journal:  J Inherit Metab Dis       Date:  2008-07-10       Impact factor: 4.982

2.  The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.

Authors:  Aliya Alansari; Samira Al-Rawahi; Taher Ba-Omar; Mariam Al-Nabhani; Anand Date
Journal:  Sultan Qaboos Univ Med J       Date:  2013-11-08

3.  Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Authors:  Sueli M Oba-Shinjo; Roseli da Silva; Fernanda G Andrade; Rachel E Palmer; Robert J Pomponio; Kristina M Ciociola; Mary S Carvalho; Paulo S Gutierrez; Gilda Porta; Carlo D Marrone; Verônica Munoz; Anderson K Grzesiuk; Juan C Llerena; Célia R Berditchevsky; Claudia Sobreira; Dafne Horovitz; Thamine P Hatem; Elizabeth R C Frota; Rogerio Pecchini; João Aris Kouyoumdjian; Lineu Werneck; Veronica M Amado; José S Camelo; Robert J Mattaliano; Suely K N Marie
Journal:  J Neurol       Date:  2009-07-09       Impact factor: 4.849

Review 4.  Molecular genetics of Pompe disease: a comprehensive overview.

Authors:  Paolo Peruzzo; Eleonora Pavan; Andrea Dardis
Journal:  Ann Transl Med       Date:  2019-07

5.  Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.

Authors:  Marieke Hoeksma; Maartje Boon; Klary E Niezen-Koning; Lidy van Overbeek-van Gils; Francjan J van Spronsen
Journal:  Eur J Pediatr       Date:  2006-10-17       Impact factor: 3.183

6.  Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Authors:  Claudio Semplicini; Pascaline Letard; Marie De Antonio; Nadjib Taouagh; Barbara Perniconi; Françoise Bouhour; Andoni Echaniz-Laguna; David Orlikowski; Sabrina Sacconi; Emmanuelle Salort-Campana; Guilhem Solé; Fabien Zagnoli; Dalil Hamroun; Roseline Froissart; Catherine Caillaud; Pascal Laforêt
Journal:  J Inherit Metab Dis       Date:  2018-08-28       Impact factor: 4.982

Review 7.  Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Authors:  Gauthier Remiche; Dario Ronchi; Francesca Magri; Costanza Lamperti; Andreina Bordoni; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi
Journal:  J Neurol       Date:  2013-10-25       Impact factor: 4.849

8.  Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

Authors:  Maryann L Huie; Kwame Anyane-Yeboa; Edwin Guzman; Rochelle Hirschhorn
Journal:  Am J Hum Genet       Date:  2002-02-19       Impact factor: 11.025

9.  Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Authors:  Federica Montagnese; E Barca; O Musumeci; S Mondello; A Migliorato; A Ciranni; C Rodolico; P De Filippi; C Danesino; A Toscano
Journal:  J Neurol       Date:  2015-02-12       Impact factor: 4.849

10.  A review of treatment of Pompe disease in infants.

Authors:  Yin-Hsiu Chien; Wuh-Liang Hwu
Journal:  Biologics       Date:  2007-09
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