Literature DB >> 14551696

[Diagnosis and differential diagnosis of lysosomal glycogen storage disease].

D Fischer1, S Paus, R Schröder.   

Abstract

We report a 73-year-old patient with acid maltase deficiency who initially had been suspected of having motor neuron disease. We discuss clinical and electrophysiological features of muscular lysosomal glycogenosis, with special emphasis on the histopathological differential diagnosis of the disease.

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Year:  2003        PMID： 14551696     DOI： 10.1007/s00115-003-1575-5

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


  16 in total

1.  Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Authors:  M G Ausems; J H Wokke; A J Reuser; O P van Diggelen
Journal:  Neurology       Date:  2001-11-27       Impact factor: 9.910

2.  Acid maltase deficiency: comparison of infantile, childhood, and adult types.

Authors:  A G Engel; M E Seybold; E H Lambert; M R Gomez
Journal:  Neurology       Date:  1970-04       Impact factor: 9.910

3.  Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Authors:  A Yamamoto; Y Morisawa; A Verloes; N Murakami; M Hirano; I Nonaka; I Nishino
Journal:  Neurology       Date:  2001-09-11       Impact factor: 9.910

4.  Lysosomal glycogen storage disease with normal acid maltase.

Authors:  M J Danon; S J Oh; S DiMauro; J R Manaligod; A Eastwood; S Naidu; L H Schliselfeld
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

5.  Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Authors:  I Nishino; J Fu; K Tanji; T Yamada; S Shimojo; T Koori; M Mora; J E Riggs; S J Oh; Y Koga; C M Sue; A Yamamoto; N Murakami; S Shanske; E Byrne; E Bonilla; I Nonaka; S DiMauro; M Hirano
Journal:  Nature       Date:  2000-08-24       Impact factor: 49.962

6.  X-linked myopathy with excessive autophagy: a clinicopathological study of five new families.

Authors:  B Chabrol; D Figarella-Branger; M Coquet; J Mancini; D Fontan; J M Pedespan; C Francannet; J Pouget; A M Beaufrère; J F Pellissier
Journal:  Neuromuscul Disord       Date:  2001-05       Impact factor: 4.296

Review 7.  Clinicopathological features of genetically confirmed Danon disease.

Authors:  K Sugie; A Yamamoto; K Murayama; S J Oh; M Takahashi; M Mora; J E Riggs; J Colomer; C Iturriaga; A Meloni; C Lamperti; S Saitoh; E Byrne; S DiMauro; I Nonaka; M Hirano; I Nishino
Journal:  Neurology       Date:  2002-06-25       Impact factor: 9.910

Review 8.  Glycogenosis type II (acid maltase deficiency).

Authors:  A J Reuser; M A Kroos; M M Hermans; A G Bijvoet; M P Verbeet; O P Van Diggelen; W J Kleijer; A T Van der Ploeg
Journal:  Muscle Nerve Suppl       Date:  1995

Review 9.  Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

Authors:  N Raben; R C Nichols; C Boerkoel; P Plotz
Journal:  Muscle Nerve Suppl       Date:  1995

10.  X-linked myopathy with excessive autophagy: a new hereditary muscle disease.

Authors:  H Kalimo; M L Savontaus; H Lang; L Paljärvi; V Sonninen; P B Dean; K Katevuo; A Salminen
Journal:  Ann Neurol       Date:  1988-03       Impact factor: 10.422
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  1 in total

1.  [Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom].

Authors:  L Burghaus; W Liu; E Neuen-Jacob; K Gempel; W F Haupt
Journal:  Nervenarzt       Date:  2006-02       Impact factor: 1.214
  1 in total

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