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kw.\*:("Glicogenosis II Pompe")

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Enhanced enzyme activity after incubation with zinc can be used to distinguish heterozygotes of Pompe's diseaseCHING-YUANG LIN.Pediatric research. 1988, Vol 23, Num 3, pp 283-287, issn 0031-3998Article

Parental genetic contribution to mode of presentation in Pompe diseaseCOTTRILL, C. M; JOHNSON, G. L; NOONAN, J. A et al.Pediatrics (Evanston). 1987, Vol 79, Num 3, pp 379-381, issn 0031-4005Article

Clinical observations on seven patients with infantile Pompe's diseaseMING-REN CHEN; SHUAN-PEI LIN; TSENG-CHEN SUNG et al.Xiaoér keyi xuéhuì zázhì. 1987, Vol 28, Num 6, pp 464-469, issn 0001-6578Article

Pompe's diseaseMELVIN, J. J.Archives of neurology (Chicago). 2000, Vol 57, Num 1, pp 134-135, issn 0003-9942Article

Ichthyosiforme Schuppung bei α-1,4 Glukosidase-Mangel = Desquamation ichthyosiforme dans le déficit en α-1,4 glucosidase = Ichthyosis in α-1,4 glucosidase deficiencyGEBHART, W; MAINITZ, M; JURECKA, W et al.Hautarzt. 1988, Vol 39, Num 4, pp 228-232, issn 0017-8470Article

Pompe disease gene therapyBYRNE, Barry J; FALK, Darin J; CLOUTIER, Denise A et al.Human molecular genetics (Print). 2011, Vol 20, Num 1, issn 0964-6906, R61-R68, NSArticle

Lysosomal Storage Disease 2 Pompe's diseaseVAN DER PLOEG, Ans T; REUSER, Amold J. J.Lancet (British edition). 2008, Vol 372, Num 9646, pp 1342-1353, issn 0140-6736, 12 p.Article

A New Look at the Pathogenesis of Pompe DiseaseRABEN, Nina; PLOTZ, Paul H.Clinical therapeutics. 2008, Vol 30, issn 0149-2918, S86-S87, SUPCConference Paper

Seven cases of Pompe disease from GreeceKROOS, M; MANTA, P; MAVRIDOU, I et al.Journal of inherited metabolic disease. 2006, Vol 29, Num 4, pp 556-563, issn 0141-8955, 8 p.Article

A simple differential immunoprecipitation assay of urinary acid and neutral α-glucosidases for glycogenosis IITSUJI, a; REI-CHENG YANG; OMURA, K et al.Clinica chimica acta. 1987, Vol 167, Num 3, pp 313-320, issn 0009-8981Article

Hearing in adults with Pompe diseaseVAN DER BEEK, Nadine A. M. E; VERSCHUURE, Hans; REUSER, Arnold J. J et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 2, pp 335-341, issn 0141-8955, 7 p.Article

JOHANNES C. POMPE, MD, HERO OF NEUROSCIENCE: THE MAN BEHIND THE SYNDROMEZEIDMAN, Lawrence A.Muscle & nerve. 2012, Vol 46, Num 1, pp 134-138, issn 0148-639X, 5 p.Article

MAKING DIAGNOSIS OF POMPE DISEASE AT A PRESYMPTOMATIC STAGE: TO TREAT OR NOT TO TREAT?LALOUI, K; WARY, C; CARLIER, R.-Y et al.Neurology. 2011, Vol 77, Num 6, pp 594-595, issn 0028-3878, 2 p.Article

CRIM-negative infantile Pompe disease: 42-month treatment outcomeROHRBACH, Marianne; KLEIN, Andrea; KÖHLI-WIESNER, Alice et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 6, pp 751-757, issn 0141-8955, 7 p.Article

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotypeKROOS, M. A; POMPONIO, R. J; HALLEY, D. J. J et al.Neurology. 2007, Vol 68, Num 2, pp 110-115, issn 0028-3878, 6 p.Article

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectorsMAH, C; CRESAWN, K. O; FRAITES, T. J et al.Gene therapy (Basingstoke). 2005, Vol 12, Num 18, pp 1405-1409, issn 0969-7128, 5 p.Article

The natural course of non-classic Pompe's disease; a review of 225 published casesHAGEMANS, Marloes L. C; VAN DOORN, Pieter A et al.Journal of neurology. 2005, Vol 252, Num 8, pp 875-884, issn 0340-5354, 10 p.Article

Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type IIAUSEMS, M. G. E. M; KROOS, M. A; VAN DER KRAAN, M et al.Clinical genetics. 1996, Vol 49, Num 6, pp 325-328, issn 0009-9163Article

Type II glycogenosis and thyroxine binding globulin deficiency in the same familyMANTA, P; KONTOLEON, P; PANOUSOPOULOU, A et al.Functional neurology. 1996, Vol 11, Num 2-3, pp 105-110, issn 0393-5264Conference Paper

Extensive genetic heterogeneity in patients with acid glucosidase deficiency as detected by abnormalities of DNA and mRNAMARTINIUK, F; MEHLER, M; TZALL, G et al.American journal of human genetics. 1990, Vol 47, Num 1, pp 73-78, issn 0002-9297, 6 p.Article

Lymphocyte α-glucosidase in late-onset glycogenosis type IIKURIYAMA, M; KOHRIYAMA, T; IWAMASA, T et al.Archives of neurology (Chicago). 1989, Vol 46, Num 4, pp 460-462, issn 0003-9942Article

Cell-free translation of human lysosomal α-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type IIVAN DER HORST, G. T. J; HOEFSLOOT, E. H; KROOS, M. A et al.Biochimica et biophysica acta. 1987, Vol 910, Num 2, pp 123-129, issn 0006-3002Article

Clinical diversity in glycogenosis type II: biosynthesis and in situ localization of acid α-glucosidase in mutant fibroblastsREUSER, A. J. J; KROOS, M; WILLEMSEN, R et al.The Journal of clinical investigation. 1987, Vol 79, Num 6, pp 1689-1699, issn 0021-9738Article

Pompe's disease in Chinese and prenatal diagnosis by determination of α-glucosidase activityLIN, C.-Y; HWANG, B; HSIAO, K.-J et al.Journal of inherited metabolic disease. 1987, Vol 10, Num 1, pp 11-17, issn 0141-8955Article

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe diseaseLAFORET, P; LALOUI, K; PENISSON-BESNIER, I et al.Revue neurologique (Paris). 2013, Vol 169, Num 8-9, pp 595-602, issn 0035-3787, 8 p.Article

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