Literature DB >> 6429285

Respiratory failure as initial symptom of acid maltase deficiency.

R W Keunen, P C Lambregts, A A Op de Coul, E M Joosten.   

Abstract

Nine patients with adult onset acid maltase deficiency were seen at the Nijmegen University Hospital and the St Elisabeth Hospital, Tilburg , during the period 1970-1982. Five of these patients developed respiratory failure, and in four this was the initial symptom. The occurrence of respiratory failure as an early symptom of this muscular disease is discussed.

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Year:  1984        PMID： 6429285      PMCID： PMC1027835          DOI： 10.1136/jnnp.47.5.549

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  11 in total

1.  The adult form of acid maltase (alpha-1,4-glucosidase) deficiency.

Authors:  G Karpati; S Carpenter; A Eisen; M Aubé; S DiMauro
Journal:  Ann Neurol       Date:  1977-03       Impact factor: 10.422

2.  Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease.

Authors:  R B Mellins; A P Hays; A P Gold; W E Berdon; J D Bowdler
Journal:  Pediatrics       Date:  1974-01       Impact factor: 7.124

3.  Diaphragmatic paralysis in motor neuron disease. Report of two cases and a review of the literature.

Authors:  I M Parhad; A W Clark; K D Barron; S B Staunton
Journal:  Neurology       Date:  1978-01       Impact factor: 9.910

4.  Acute respiratory failure in motor neuron disease.

Authors:  R Hill; J Martin; A Hakim
Journal:  Arch Neurol       Date:  1983-01

5.  Inspiratory muscle fatigue and acute respiratory failure.

Authors:  C Roussos; A Grassino; P T Macklem
Journal:  Can Med Assoc J       Date:  1980-06-21       Impact factor: 8.262

6.  A case of primary alveolar hypoventilation associated with mild proximal myopathy.

Authors:  D Bellamy; J M Davis; B P Hickey; S R Benatar; T J Clark
Journal:  Am Rev Respir Dis       Date:  1975-12

7.  Acid maltase deficiency in adults presenting as respiratory failure.

Authors:  E C Rosenow; A G Engel
Journal:  Am J Med       Date:  1978-03       Impact factor: 4.965

8.  Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis.

Authors:  E D Sivak; V D Salanga; A J Wilbourn; H Mitsumoto; J Golish
Journal:  Ann Neurol       Date:  1981-06       Impact factor: 10.422

9.  Familial myoadenylate deaminase deficiency and exertional myalgia.

Authors:  J Kelemen; D R Rice; W G Bradley; T L Munsat; S DiMauro; E L Hogan
Journal:  Neurology       Date:  1982-08       Impact factor: 9.910

10.  Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty.

Authors:  N I Lightman; R T Schooley
Journal:  Chest       Date:  1977-08       Impact factor: 9.410
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  10 in total

1.  Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.

Authors:  A M Chancellor; C P Warlow; J N Webb; M G Lucas; G T Besley; D M Broadhead
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-07       Impact factor: 10.154

Review 2.  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 3.  Acute neuromuscular respiratory paralysis.

Authors:  R A Hughes; D Bihari
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-04       Impact factor: 10.154

4.  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

5.  Long-term management of acute respiratory failure in metabolic myopathy.

Authors:  G Pfeiffer; G Winkler; P Neunzig; W Wolf; G Thayssen; K Kunze
Journal:  Intensive Care Med       Date:  1996-12       Impact factor: 17.440

Review 6.  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

7.  Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.

Authors:  Deniz Güngör; Juna M de Vries; Wim C J Hop; Arnold J J Reuser; Pieter A van Doorn; Ans T van der Ploeg; Marloes L C Hagemans
Journal:  Orphanet J Rare Dis       Date:  2011-06-01       Impact factor: 4.123

8.  Pompe disease diagnosis and management guideline.

Authors:  Priya S Kishnani; Robert D Steiner; Deeksha Bali; Kenneth Berger; Barry J Byrne; Laura E Case; Laura Case; John F Crowley; Steven Downs; R Rodney Howell; Richard M Kravitz; Joanne Mackey; Deborah Marsden; Anna Maria Martins; David S Millington; Marc Nicolino; Gwen O'Grady; Marc C Patterson; David M Rapoport; Alfred Slonim; Carolyn T Spencer; Cynthia J Tifft; Michael S Watson
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

9.  Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.

Authors:  Marco Confalonieri; Michele Vitacca; Raffaele Scala; Mario Polverino; Eugenio Sabato; Grazia Crescimanno; Piero Ceriana; Caterina Antonaglia; Gabriele Siciliano; Nadja Ring; Serena Zacchigna; Francesco Salton; Andrea Vianello
Journal:  Orphanet J Rare Dis       Date:  2019-03-04       Impact factor: 4.123

Review 10.  Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist.

Authors:  Natan Gadoth; Arie Oksenberg
Journal:  Front Neurol       Date:  2014-07-17       Impact factor: 4.003
  10 in total

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