(Q36245480)

13 August 2017

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title

The natural course of non-classic Pompe's disease; a review of 225 published cases (English)

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13 August 2017

3

Pieter A van Doorn

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13 August 2017

Léon P F Winkel

1

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13 August 2017

Marloes L C Hagemans

2

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13 August 2017

M Christa B Loonen

4

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13 August 2017

Wim J C Hop

5

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13 August 2017

Arnold J J Reuser

6

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13 August 2017

Ans T van der Ploeg

7

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13 August 2017

language of work or name

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1 August 2005

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13 August 2017

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13 August 2017

252

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13 August 2017

8

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13 August 2017

875-884

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https://scigraph.springernature.com/pub.10.1007/s00415-005-0922-9

13 August 2017

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cites work

Infantile and adult-onset acid maltase deficiency occurring in the same family

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Juvenile-onset acid maltase deficiency with unusual familial features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

The spectrum and diagnosis of acid maltase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Lymphocyte alpha-glucosidase in late-onset glycogenosis type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Sleep-disordered breathing and respiratory failure in acid maltase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Prevalence and risk of rupture of intracranial aneurysms: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Adult-onset acid maltase deficiency. Electrophysiological properties of aneurally cultured muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0922-9

Alpha-glucosidase deficiency in a child

21 January 2018

1 reference

12 December 2020

Glycogenosis type II (acid maltase deficiency)

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12 December 2020

Type II glycogenosis and thyroxine binding globulin deficiency in the same family

1 reference

12 December 2020

Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype

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12 December 2020

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

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12 December 2020

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

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12 December 2020

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype

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12 December 2020

Acid maltase deficiency: treatment of respiratory insufficiency with cuirass respirator

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12 December 2020

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12 December 2020

Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)

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12 December 2020

Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family

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12 December 2020

Glycogen storage disease (Pompe's disease) presenting as myopathy in the adult (author's transl)

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12 December 2020

Improvement of muscle function in acid maltase deficiency by high-protein therapy

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12 December 2020

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

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12 December 2020

Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report.

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12 December 2020

Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle

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12 December 2020

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

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12 December 2020

Respiratory insufficiency in acid maltase deficiency: the effect of high protein diet

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12 December 2020

The pattern of involvement of adult-onset acid maltase deficiency at autopsy

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12 December 2020

[Ichthyosiform scaling in alpha-1,4-glucosidase deficiency]

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12 December 2020

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

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12 December 2020

Adult-onset acid maltase deficiency: A postmortem study

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12 December 2020

[Clinical follow-up in the adult (myopathic) form of glycogenosis type II]

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12 December 2020

An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis

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12 December 2020

Acid maltase deficiency in adults presenting as respiratory failure

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12 December 2020

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.

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12 December 2020

Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.

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12 December 2020

"Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency.

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12 December 2020

Adult onset acid maltase deficiency associated with epilepsy and dementia: a case report

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12 December 2020

Multiple neutral maltase activities in normal and acid maltase-deficient human muscle

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12 December 2020

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

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12 December 2020

[A vacuolar myopathy: autophagic glycogenosis of late onset. Ultrastructural study]

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12 December 2020

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

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12 December 2020

Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II

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12 December 2020

Juvenile acid maltase deficiency presenting as paravertebral pseudotumour

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12 December 2020

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

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12 December 2020

The rigid spine syndrome due to acid maltase deficiency

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12 December 2020

Late Infantile Acid Maltase Deficiency

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12 December 2020

Effects of a high-protein diet in acid maltase deficiency

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12 December 2020

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.

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12 December 2020

Late-onset acid maltase deficiency in a Chinese girl

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12 December 2020

Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case.

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12 December 2020

Prolonged respiratory depression after anesthesia for parathyroidectomy in a patient with juvenile type of acid maltase deficiency.

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12 December 2020

Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene

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12 December 2020

Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency

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12 December 2020

[Acute respiratory distress in adults disclosing myopathy caused by acid maltase deficiency]

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12 December 2020

Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow

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12 December 2020

Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres

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12 December 2020

Immunocytochemical analysis of normal and acid maltase-deficient muscle cultures

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12 December 2020

A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies

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12 December 2020

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

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12 December 2020

Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase

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12 December 2020

Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet

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12 December 2020

[Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase]

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12 December 2020

[Nightly home artificial respiration in juvenile Pompe's disease with pulmonary hypertension and right cardiac insufficiency]

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12 December 2020

The Mount Sinai Hospital clinicalpathological conference: a 45-year-old man with Pompe's disease and dilated cardiomyopathy

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12 December 2020

A family with pseudodeficiency of acid alpha-glucosidase

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12 December 2020

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

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12 December 2020

Myopathy in the adult form of glycogenosis II. Two case reports and review of the literature

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12 December 2020

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures

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12 December 2020

Genotype-phenotype correlation in adult-onset acid maltase deficiency

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12 December 2020

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

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12 December 2020

Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency

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12 December 2020

Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients

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12 December 2020

Late-onset acid maltase deficiency associated with intracranial aneurysm

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12 December 2020

A case of primary alveolar hypoventilation associated with mild proximal myopathy

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12 December 2020

Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study

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12 December 2020

Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method

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12 December 2020

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins

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12 December 2020

Respiratory insufficiency in adult-type acid maltase deficiency

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12 December 2020

A new case of acid maltase deficiency. Treatment by artificial respiration at home

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12 December 2020

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

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12 December 2020

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.

1 reference

12 December 2020

[Mitigated adult forms of acid maltase deficiency (Pompe's disease). Morphologic and pathobiochemical studies]

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12 December 2020

Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl)

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12 December 2020

Acid maltase deficiency: clinical and laboratory features of adult-onset cases

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-1986. A 29-year-old woman with slowly progressive proximal-muscle weakness

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12 December 2020

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

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12 December 2020

Identification of two subtypes of infantile acid maltase deficiency

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12 December 2020

Acid maltase deficiency in an adult. Evidence for improvement in respiratory function with high-protein dietary therapy

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12 December 2020

Biochemical, immunological, and cell genetic studies in glycogenosis type II

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12 December 2020

Acid maltase deficiency of adult life

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12 December 2020

The constellation of adult acid maltase deficiency: clinical, electrophysiologic, and morphologic features

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12 December 2020

Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)

1 reference

12 December 2020

Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases

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12 December 2020

Respiratory insufficiency in adult-onset acid maltase deficiency

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12 December 2020

[Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)]

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12 December 2020

Uncommon case of type II glycogenosis

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12 December 2020

Muscular glycogenosis of myopathic form caused by acid maltase deficiency

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12 December 2020

Glycogenosis type II: The infantile- and late-onset acid maltase deficiency observed in one family

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12 December 2020

The adolescent with acute renal failure and left ventricular hypertrophy in the absence of hypertension

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12 December 2020

Ureteroscopic removal of left ureteral lithiasis in a patient with acid maltase deficiency disease.

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12 December 2020

Treatment of acid maltase deficiency with a diet high in branched-chain amino acids

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12 December 2020

Adult myopathy from glycogen storage disease due to acid maltase deficiency

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12 December 2020

Adult-onset acid maltase deficiency in siblings

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12 December 2020

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

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12 December 2020

Decompensated cor pulmonaleas the first manifestation of adult-onset myopathy

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12 December 2020

The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult

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12 December 2020

[WPW syndrome combined with AV block 2 in an adult with glycogenosis (Type II)]

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12 December 2020

Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis

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12 December 2020

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

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12 December 2020

Adult form of acid maltase deficiency presenting as progressive spinal muscular atrophy

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12 December 2020

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

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12 December 2020

Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report.

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12 December 2020

Adult acid maltase deficiency

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12 December 2020

Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations

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12 December 2020

Respiratory improvement by muscle training in adult-onset acid maltase deficiency

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12 December 2020

Glycogen storage disease of the heart. II. Critical review of the literature.

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12 December 2020

Respiratory failure as initial symptom of acid maltase deficiency

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12 December 2020

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

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12 December 2020

High frequency discharges as a non-specific EMG activity in adult acid maltase deficiency (author's transl)

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12 December 2020

Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis

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12 December 2020

Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship

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12 December 2020

Muscular form of glycogenosis, type II (Pompe)

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12 December 2020

10.1007/S00415-005-0922-9

Identifiers

DOI

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13 August 2017

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