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Literature DB >> 9738873

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.

F Martiniuk, A Chen, A Mack, E Arvanitopoulos, Y Chen, W N Rom, W J Codd, B Hanna, P Alcabes, N Raben, P Plotz.

Abstract

Mesh：

Year: 1998 PMID： 9738873 DOI： 10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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59 in total

1. Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Authors: Paula Hernández-Arévalo; José D Santotoribio; Rocío Delarosa-Rodríguez; Antonio González-Meneses; Salvador García-Morillo; Pilar Jiménez-Arriscado; Juan M Guerrero; Hada C Macher
Journal: Orphanet J Rare Dis Date: 2021-05-21 Impact factor: 4.123

2. Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency.

Authors: Craig M Zaidman; Elizabeth C Malkus; Catherine Siener; Julaine Florence; Alan Pestronk; Muhammad Al-Lozi
Journal: Muscle Nerve Date: 2011-07-13 Impact factor: 3.217

Review 3. Glycogen storage disease type II: clinical overview.

Authors: M Di Rocco; D Buzzi; M Tarò
Journal: Acta Myol Date: 2007-07

4. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Authors: S Strothotte; N Strigl-Pill; B Grunert; C Kornblum; K Eger; C Wessig; M Deschauer; F Breunig; F X Glocker; S Vielhaber; A Brejova; M Hilz; K Reiners; W Müller-Felber; E Mengel; M Spranger; Benedikt Schoser
Journal: J Neurol Date: 2009-08-01 Impact factor: 4.849

5. Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report.

Authors: Josko Markic; Branka Polic; Radenka Kuzmanic-Samija; Eugenija Marusic; Luka Stricevic; Vitomir Metlicic; Julije Mestrovic
Journal: JIMD Rep Date: 2011-09-06

9. Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.

Authors: Andrew Del Gaizo; Sima Banerjee; Michael Terk
Journal: Skeletal Radiol Date: 2009-12 Impact factor: 2.199

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

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