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Literature DB >> 9529346

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

J A Becker, J Vlach, N Raben, K Nagaraju, E M Adams, M M Hermans, A J Reuser, S S Brooks, C J Tifft, R Hirschhorn, M L Huie, M Nicolino, P H Plotz.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Year: 1998 PMID： 9529346 PMCID： PMC1377028 DOI： 10.1086/301788

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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21 in total

1. 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

2. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Authors: Mónica Yasmín Niño; Heidi Eliana Mateus; Dora Janeth Fonseca; Marian A Kroos; Sandra Yaneth Ospina; Juan Fernando Mejía; Jesús Alfredo Uribe; Arnold J J Reuser; Paul Laissue
Journal: JIMD Rep Date: 2012-04-19

Review 3. Molecular genetics of Pompe disease: a comprehensive overview.

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

Review 4. Pompe Disease: From Basic Science to Therapy.

Authors: Lara Kohler; Rosa Puertollano; Nina Raben
Journal: Neurotherapeutics Date: 2018-10 Impact factor: 7.620

Review 5. The dynamic life of the glycogen granule.

Authors: Clara Prats; Terry E Graham; Jane Shearer
Journal: J Biol Chem Date: 2018-02-26 Impact factor: 5.157

6. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Authors: Xiao Liu; Zhaoxia Wang; Weina Jin; He Lv; Wei Zhang; Chengli Que; Yu Huang; Yun Yuan
Journal: BMC Med Genet Date: 2014-12-20 Impact factor: 2.103

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

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

2. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Review 3. Molecular genetics of Pompe disease: a comprehensive overview.

Review 4. Pompe Disease: From Basic Science to Therapy.

Review 5. The dynamic life of the glycogen granule.

6. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

7. A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

Review 8. Pompe disease: from pathophysiology to therapy and back again.

9. Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Review 10. Infantile-onset Pompe disease with neonatal debut: A case report and literature review.