GLYCOGENOSIS TYPE II (POMPE). THE FOURTH AUTOPSY CASE IN JAPAN = GLYCOGENOSE TYPE II (POMPE). LA QUATRIEME AUTOPSIE AU JAPONSAKURAI I; TOSAKA A; MORI Y et al.1974; ACTA PATHOL. JAP.; JAP.; DA. 1974; VOL. 24; NO 6; PP. 829-846; BIBL. 22 REF.Article

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

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

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

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe DiseaseCHIEN, Yin-Hsiu; LEE, Ni-Chung; HUANG, Pei-Hsin et al.Pediatric neurology. 2012, Vol 46, Num 3, pp 168-171, issn 0887-8994, 4 p.Article

24-Months results in two adults with Pompe disease on enzyme replacement therapyVIELHABER, Stefan; BREJOVA, Andrea; DEBSKA-VIELHABER, Grazyna et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2011, Vol 113, Num 5, pp 350-357, issn 0303-8467, 8 p.Article

Use of the muscle volume analyzer to evaluate enzyme replacement therapy in late-onset Pompe diseaseSUGAI, Fuminobu; KOKUNAI, Yosuke; YAMAMOTO, Yoichi et al.Journal of neurology. 2010, Vol 257, Num 3, pp 461-463, issn 0340-5354, 3 p.Article

La maladie de Pompe: une myopathie métabolique à l'ère de l'enzymothérapie = Pompe disease: a metabolic myopathy at the time of enzyme replacement therapyPRALINE, Julien; LIMOUSIN, Nadège; BERGEMER-FOUQUET, Anne-Marie et al.Neurologie.com. 2009, Vol 1, Num 1, pp 12-15, issn 2100-9511, 4 p.Article

The Brazilian Consensus on the Management of Pompe DiseaseLLERENA, Juan C; HOROVITZ, Dafne Maria; NAGAHASHI MARIE, Suely Kazue et al.The Journal of pediatrics. 2009, Vol 155, Num 4, issn 0022-3476, S47-S56, SUP2Article

ENZYME REPLACEMENT THERAPY FOR INFANTILE-ONSET POMPE DISEASE : CURSE OR CURE?WILLEMS, Jef; PETROS, Andy; BRIERLEY, Joe et al.Neurology. 2008, Vol 71, Num 5, pp 380-381, issn 0028-3878, 2 p.Article

Maladie de Pompe: Une arthrose dyspnéisanteLAFORET, P.Revue des maladies respiratoires actualités (Print). 2014, Vol 6, Num 1, pp 20-21, issn 1877-1203, 2 p.Article

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapyREGNERY, Caroline; KORNBLUM, Cornelia; MENGEL, Eugen et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 5, pp 837-845, issn 0141-8955, 9 p.Article

Immunodominant Liver-Specific Expression Suppresses Transgene-Directed Immune Responses in Murine Pompe DiseasePING ZHANG; BAODONG SUN; OSADA, Takuya et al.Human gene therapy. 2012, Vol 23, Num 5, pp 460-472, issn 1043-0342, 13 p.Article

Autophagy and Mitochondria in Pompe Disease: Nothing Is so New as What Has Long Been ForgottenRABEN, Nina; WONG, Amanda; RALSTON, Evelyn et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 13-21, issn 1552-4868, 9 p.Article

Acid Maltase Deficiency — Pompe's DiseaseJAMIL, Sajjad; AHMED, Shahid; TARIQ, Muhammad et al.Journal of the Pakistan Medical Association. 2011, Vol 61, Num 8, pp 821-823, issn 0030-9982, 3 p.Article

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe diseaseHAGEMANS, Marloes L. C; STIGTER, Rolinda L; VAN CAPELLE, Carine I et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 2, pp 133-139, issn 0141-8955, 7 p.Article

Myosite à inclusions trompeuse: savoir répéter la biopsie musculaire = Spurious inclusion body myositis: Repeat the muscle biopsyCHERIN, P; CABANE, J.La Revue de médecine interne (Paris). 2010, Vol 31, Num 1, pp 66-68, issn 0248-8663, 3 p.Article

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substratesVAN DIGGELEN, O. P; OEMARDIEN, L. F; VAN DER BEEK, N. A. M. E et al.Journal of inherited metabolic disease. 2009, Vol 32, Num 3, pp 416-423, issn 0141-8955, 8 p.Article

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotypeVAN DEN BERG, L. E. M; DROST, M. R; SCHAART, G et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 5, pp 787-794, issn 0141-8955, 8 p.Article

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapyEBBINK, B. J; AARSEN, F. K; GELDER, C. M. Van et al.Neurology. 2012, Vol 78, Num 19, pp 1512-1518, issn 0028-3878, 7 p.Article