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Biochemical and biophysical research communications,4, p.

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Moonlighting newborn screening markers: Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients. Journal of research in medical sciences: Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? American journal of medical genetics.

Part A, Epub, 7 p. FResearch, 6,14 p. Newborn Screening for Pompe Disease.


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Pediatrics,Suppl 1, p. Newborn screening for six lysosomal biochimiie disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

Molecular genetics and metabolism, Epub, 6 p. Cardiomyopathie hypertrophique chez un homme de 49 ans: La Revue de medecine interne, Epub, 3 p.

American journal of human genetics, 99, 3, p. TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: Clinical science London, England: Long-term, high-level hepatic secretion of acid alpha-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus Rastall DP, Seregin SS, Aldhamen YA, et al.

Gene therapy, Epub, 10 p. Human gene therapy, Epub, bipchimie p. Orphanet journal of rare diseases, 65, 11 p. JIMD reports, Epub, 5 p.

Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations Zhai L, Feng L, Xia L, et al. Nature communications, 7, 11 p.

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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses. Mitochondrion, 27, p. Stem cells and development, 25, 2, p.