Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

Neurogenetics ◽

10.1007/s100480050030 ◽

1998 ◽

Vol 1 (3) ◽

pp. 205-211 ◽

Author(s):

M. Vorgerd ◽

Barbara Burwinkel ◽

Heinz Reichmann ◽

Jean-Pierre Malin ◽

Manfred W. Kilimann

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Allelic Heterogeneity ◽

Type Ii ◽

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Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

Skeletal Radiology ◽

10.1007/s00256-009-0797-4 ◽

2009 ◽

Vol 38 (12) ◽

pp. 1205-1208 ◽

Author(s):

Andrew Del Gaizo ◽

Sima Banerjee ◽

Michael Terk

Keyword(s):

Magnetic Resonance ◽

Glycogen Storage Disease ◽

Pompe Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Magnetic Resonance Images ◽

Disease Type ◽

Type Ii ◽

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Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

Advances in Therapy ◽

10.1007/s12325-008-0086-y ◽

2008 ◽

Vol 25 (8) ◽

pp. 820-829 ◽

Author(s):

Sabrina Ravaglia ◽

Cesare Danesino ◽

Anna Pichiecchio ◽

Alessandra Repetto ◽

Guy Umberto Poloni ◽

...

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Adult Onset ◽

Enzyme Replacement

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A diagnostic protocol for adult-onset glycogen storage disease type II

Neurology ◽

10.1212/wnl.52.4.851 ◽

1999 ◽

Vol 52 (4) ◽

pp. 851-851 ◽

Author(s):

M. G. E. M. Ausems ◽

P. Lochman ◽

O. P. van Diggelen ◽

H. K. P. van Amstel ◽

A. J. J. Reuser ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Adult Onset ◽

Diagnostic Protocol

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The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-006-0238-7 ◽

2006 ◽

Vol 29 (1) ◽

pp. 226-229 ◽

Author(s):

H. R. Mundy ◽

J. E. Williams ◽

A. J. Cousins ◽

P. J. Lee

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

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Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

Human Molecular Genetics ◽

10.1093/hmg/3.12.2231 ◽

1994 ◽

Vol 3 (12) ◽

pp. 2231-2236 ◽

Author(s):

M.L. Hule ◽

A.S. Chen ◽

S. Tsujino ◽

S. Shanske ◽

S. DiMauro ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Molecular Identification ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Adult Onset ◽

Aberrant Splicing

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Orphan designation: miglustat, Treatment of glycogen storage disease type II (Pompe's disease)

Case Medical Research ◽

10.31525/cmr-ea52d0 ◽

2019 ◽

Author(s):

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Orphan Designation ◽

Pompe’S Disease ◽

Pompe's Disease

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Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Journal of Neurology ◽

10.1007/s00415-008-0714-0 ◽

2008 ◽

Vol 255 (6) ◽

pp. 831-838 ◽

Author(s):

L. Wan ◽

C.-C. Lee ◽

C.-M. Hsu ◽

W.-L. Hwu ◽

C.-C. Yang ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Novel Mutations ◽

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Increased Excretion of a Glucose-Containing Tetrasaccharide in the Urine of a Patient with Glycogen Storage Disease Type II (Pompe's Disease)

European Journal of Clinical Investigation ◽

10.1111/j.1365-2362.1974.tb02358.x ◽

1974 ◽

Vol 4 (6) ◽

pp. 429-433 ◽

Author(s):

P. Hallgren ◽

G. Hansson ◽

K. G. Henriksson ◽

A. Häger ◽

A. Lundblad ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Pompe’S Disease ◽

Pompe's Disease

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Glycogen Storage Disease Type II (Pompe Disease)

Encyclopedia of Special Education ◽

10.1002/9781118660584.ese1026 ◽

2014 ◽

Author(s):

Barry H. Davison ◽

Joan W. Mayfield

Keyword(s):

Glycogen Storage Disease ◽

Pompe Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

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A case of glycogen storage disease type II with double aortic arch

Acta Paediatrica ◽

10.1111/j.1651-2227.2000.tb00399.x ◽

2000 ◽

Vol 89 (7) ◽

pp. 884-886 ◽

Author(s):

F Akalin ◽

G Alper ◽

F Ouztunç ◽

E KotilogUlu ◽

S Turan

Keyword(s):

Aortic Arch ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Double Aortic Arch ◽

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