Literature DB >> 8423580

Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis.

D Barnes1, R A Hughes, G T Spencer.   

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Year:  1993        PMID： 8423580      PMCID： PMC1293827     

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   5.344


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  3 in total

1.  The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency.

Authors:  A M Umpleby; P S Trend; D Chubb; J V Conaglen; C D Williams; R Hesp; I N Scobie; C M Wiles; G Spencer; P H Sönksen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-08       Impact factor: 10.154

2.  Acid maltase deficiency in adults. Diagnosis and management in five cases.

Authors:  P S Trend; C M Wiles; G T Spencer; J A Morgan-Hughes; B D Lake; A D Patrick
Journal:  Brain       Date:  1985-12       Impact factor: 13.501

3.  Effects of a high-protein diet in acid maltase deficiency.

Authors:  G W Padberg; A R Wintzen; M A Giesberts; P J Sterk; A J Molenaar; J Hermans
Journal:  J Neurol Sci       Date:  1989-03       Impact factor: 3.181
  3 in total
  4 in total

Review 1.  The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors:  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
Journal:  J Neurol       Date:  2005-08       Impact factor: 4.849

Review 2.  Consensus treatment recommendations for late-onset Pompe disease.

Authors:  Edward J Cupler; Kenneth I Berger; Robert T Leshner; Gil I Wolfe; Jay J Han; Richard J Barohn; John T Kissel
Journal:  Muscle Nerve       Date:  2011-12-15       Impact factor: 3.217

3.  Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.

Authors:  Nadine A M E van der Beek; Juna M de Vries; Marloes L C Hagemans; Wim C J Hop; Marian A Kroos; John H J Wokke; Marianne de Visser; Baziel G M van Engelen; Jan B M Kuks; Anneke J van der Kooi; Nicolette C Notermans; Karin G Faber; Jan J G M Verschuuren; Arnold J J Reuser; Ans T van der Ploeg; Pieter A van Doorn
Journal:  Orphanet J Rare Dis       Date:  2012-11-12       Impact factor: 4.123

4.  Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Authors:  Lorenzo Maggi; Franco Salerno; Cinzia Bragato; Simona Saredi; Flavia Blasevich; Elio Maccagnano; Barbara Pasanisi; Cesare Danesino; Marina Mora; Lucia Morandi
Journal:  Acta Myol       Date:  2013-10
  4 in total

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