(Q36705466)

15 August 2017

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title

Acid alpha-glucosidase deficiency (Pompe disease). (English)

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15 August 2017

Tokiko Fukuda

1

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15 August 2017

Ashley Roberts

series ordinal

2

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15 August 2017

Paul H Plotz

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3

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15 August 2017

Nina Raben

series ordinal

4

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15 August 2017

1 January 2007

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Current Neurology and Neuroscience Reports

15 August 2017

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15 August 2017

7

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15 August 2017

1

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15 August 2017

71-77

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https://scigraph.springernature.com/pub.10.1007/s11910-007-0024-4

15 August 2017

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-007-0024-4

Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-007-0024-4

Pompe disease in infants and children

21 January 2018

1 reference

12 December 2020

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

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12 December 2020

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

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12 December 2020

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders

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12 December 2020

Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

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12 December 2020

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12 December 2020

Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells

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12 December 2020

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

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12 December 2020

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

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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

Effect of acid maltase deficiency on the endosomal/lysosomal system and glucose transporter 4.

1 reference

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

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

1 reference

12 December 2020

Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers

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12 December 2020

Catabolic insufficiency and aging

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12 December 2020

Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease

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12 December 2020

Pompe disease diagnosis and management guideline.

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12 December 2020

Newborn screening for lysosomal storage disorders

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12 December 2020

An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele

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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

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

1 reference

12 December 2020

Enzyme replacement therapy for lysosomal storage disorders: successful transition from concept to clinical practice.

1 reference

12 December 2020

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study

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12 December 2020

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

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12 December 2020

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

1 reference

12 December 2020

Delayed or late-onset type II glycogenosis with globular inclusions.

1 reference

12 December 2020

Autophagy and lysosomes in Pompe disease

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12 December 2020

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

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12 December 2020

Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

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12 December 2020

Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease

1 reference

12 December 2020

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

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12 December 2020

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

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12 December 2020

Molecular genetic study of Pompe disease in Chinese patients in Taiwan

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12 December 2020

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

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12 December 2020

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation

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12 December 2020

Autophagy: molecular machinery for self-eating

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12 December 2020

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

1 reference

12 December 2020

Identification of two subtypes of infantile acid maltase deficiency

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12 December 2020

Mannose 6-phosphate receptors: new twists in the tale

1 reference

12 December 2020

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

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12 December 2020

Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture

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12 December 2020

Oxidative stress, accumulation of biological 'garbage', and aging

1 reference

12 December 2020

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

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12 December 2020

Alpha glucosidases in white blood cells, with reference to the detection of acid α 1–4 glucosidase deficiency

1 reference

12 December 2020

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

1 reference

12 December 2020

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease

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12 December 2020

Enzyme replacement therapy in the mouse model of Pompe disease

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12 December 2020

Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor

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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

10.1007/S11910-007-0024-4

Identifiers

DOI

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15 August 2017

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