Las Glucogenosis en España: Situación Actual y Guías Informativas

BIBLIOGRAFIA

1. 
   Léon P. F.Winkel, Marloes L. C.Hagemans, Pieter A. van Doorn, M. Christa
   B. Loonen, Wim J. C.Hop, Arnold J. J.Reuser, Ans T. van der Ploeg.- The
   natural course of non-classic Pompe's disease; a review of 225 published
   cases J Neurol (2005) 252 : 875-884
   
2. 
   Wolfgang Muller-Felber, Rita Horvath, Klaus Gempel, Teodor Podskarbi, Yoon
   Shin, Dieter Pongratz, Maggie C. Walter, Martina Baethmann, Beate Schlotter-
   Weigel, Hanns Lochmuller, Benedikt Schoser. Late onset Pompe disease: Clinical
   and neurophysiological spectrum of 38 patients including long-term follow-up in
   18 patients. Neuromuscular Disorders 17 (2007) 698-706
   
3. 
   The Pompe Disease Diagnostic Working Group: B.Winchester ,D. Bali, O.A.
   Bodamer, C. Caillaud , E. Christensen , A. Cooper , E. Cupler , M. Deschauer
   , K. Fumic' , M. Jackson , P. Kishnani , L. Lacerda , J. Ledvinova, A. Lu-
   gowska , Z. Lukacs , I. Maire , H. Mandel , E. Mengel , W. Muller-Felber ,
   M. Piraud , A. Reuser , T. Rupar , I. Sinigerska , M. Szlago, F. Verheijen ,
   O.P. van Diggelen , B. Wuyts , E. Zakharova , J. Keutzer.- Methods for a
   prompt and reliable laboratory diagnosis of Pompe disease: Report from an
   international consensus meeting. Molecular Genetics and Metabolism 93
   (2008)275-281
   
4. 
   M.A. Kroos, MSc; R.J. Pomponio, PhD; M.L. Hagemans, PhD; J.L.M. Keule-
   mans, MSc; M. Phipps, BA; M. DeRiso, BS; R.E. Palmer, PhD; M.G.E.M.
   Ausems, PhD; N.A.M.E. Van der Beek, MD; O.P. Van Diggelen, PhD; D.J.J.
   Halley, PhD; A.T. Van der Ploeg, MD, PhD; and A.J.J. Reuser. Broad spec-
   trum of Pompe disease in patients with the same c.-32-13T>G haplotype.
   Neurology 2007;68:110-115
   

64

Las Glucogenosis en España

5. 
   N.A.M.E. VanderBeek , M.L.C. Hagemans ,A.JJ. Reuser, W.C.J. Hop,A.T.
   Van der Ploeg , P.A. Van Doorn , J.H.J. Wokke. Rate of disease progression
   during long-term follow-up of patients with late-onset Pompe disease. Neu-
   romuscular Disorders 2009; 19:113-117
   
6. 
   John H.J. Wokke, Diana M. Escolar, Alan Pestronk, Kenneth M. Jaffe, Gre-
   gory T. Carter, Leonard H. Van Den Berg, Julaine M. Florence, Jill Mayhew,
   Alison Skrinar, Ma, Deyanira Corzo, Pascal Laforet. Clinical features of late-
   onset Pompe Disease: a prospective cohort study. Muscle Nerve 2008; 38:
   236-1245,
   

65
Las Glucogenosis en España

Estudio genetico de la enfermedad de Mcardle o

Glucogenosis de Tipo V