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Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
Kishnani PS, Goldenberg PC, DeArmey SL, et al.
Molecular genetics and metabolism, 2010, 99, 1, p. 26-33
Pompe disease in infants : improving the prognosis by newborn screening and early treatment
Chien YH, Lee NC, Thurberg BL, et al.
Pediatrics, 2009, 124, 6, p. e1116-e1125
Early detection of Pompe disease by newborn screening Is feasible : results from the Taiwan screening program
Chien YH, Chiang SC, Zhang XK, et al.
Pediatrics, 2008, 122, 1, p. e1-e7
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation
Raju GP, Li HC, Bali DS, et al.
Journal of child neurology, 2008, 23, 3, p. 349-352
Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance
Sun B, Bird A, Young SP, et al.
American journal of human genetics (The), 2007, 81, 5,, p. 1042-1049
Sibling phenotype concordance in classical infantile Pompe disease
Smith WE, Sullivan-Saarela JA, Li JS, et al.
American Journal of Medical Genetics Part A, 2007, 143A, 21, p. 2493-2501
Glycogen storage disease type IIIa in curly-coated retrievers
Gregory BL, Shelton GD, Bali DS, et al.
Journal of veterinary internal medicine, 2007, 21, 1, p. 40-46
Recombinant human acid alpha-glucosidase. Major clinical benefits in infantile-onset Pompe disease
Kishnani PS, Corzo D, Nicolino M, et al.
Neurology, 2007, 68, 2, p. 99-109
Fractures in children with Pompe disease : a potential long-term complication
Case LE, Hanna R, Frush DP, et al.
Pediatric radiology, 2007, 37, 5, p. 437-445
Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease
Cook AL, Kishnani PS, Carboni MP, et al.
Genetics in medicine, 2006, 8, 5, p. 313-317
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease
Zhang H, Kallwass H, Young SP, et al.
Genetics in medicine, 2006, 8, 5, p. 302-306
Electrocardiographic response to enzyme replacement therapy for Pompe disease
Ansong AK, Li JS, Nozik-Grayck E, et al.
Genetics in medicine, 2006, 8, 5, p. 297-301
Evasion of immune responses to introduced human acid alpha-glucosidase by Liver-Restricted expression in glycogen storage disease type II
Franco LM, Sun B, Yang X, et al.
Molecular therapy, 2005, 12, 5, p. 876-884
Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA
Xu F, Ding EY, Migone FK, et al.
Journal of gene medicine (The), 2005, 7, p. 171-178
Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model
Xu F, Ding EY, Liao SX, et al.
Gene therapy, 2004, 11, p. 1590-1598
Prenatal diagnosis in glycogen storage diseases
Chen YT, Bali D, Sullivan J
Prenatal diagnosis, 2002, 22, p. 357-359
Long-term efficacy after (E1-, polymerase-) Adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice
Ding EY, Hodges BL, Hu H, et al.
Human gene therapy, 2001, 12, p. 955-965
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
Santer R, Kinner M, Steuerwald U, et al.
European journal of human genetics, 2001, 9, p. 388-391
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II : Results of a phase I/II clinical trial
Amalfitano A, Bengur AR, Morse RP, et al.
Genetics in medicine, 2001, 3, 2, p. 132-138
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomaker for the diagnosis of Pompe disease
An Y, Young SP, Hillman SL, et al.
Analytical biochemistry, 2000, 287, p. 136-143
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease
Shaiu WL, Kishnani PS, Shen J, et al.
Molecular genetics and metabolism, 2000, 69, p. 16-23
Towards a molecular therapy for glycogen storage disease type II (Pompe disease)
Chen YT, Amalfitano A
Molecular medicine today, 2000, 6, 6, p. 245-251
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase
Amalfitano A, McVie-Wylie AJ, Hu H, et al.
Proceedings of the national Academy of sciences of the United States of America, 1999, 96, 16, p. 8861-8866
A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients
Parvari R, Moses S, Shen J, et al.
European journal of human genetics, 1997, 5, p. 266-270
