(Q44551622)

4 December 2017

title

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency (English)

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4 December 2017

4

Michel Fardeau

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4 December 2017

Claire Wary

1

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4 December 2017

Pascal Laforêt

2

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4 December 2017

Bruno Eymard

3

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4 December 2017

Anne Leroy-Willig

5

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4 December 2017

Guillaume Bassez

6

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4 December 2017

Jean Paul Leroy

7

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4 December 2017

Catherine Caillaud

8

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4 December 2017

Livia Poenaru

9

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4 December 2017

Pierre G Carlier

10

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4 December 2017

publication date

1 September 2003

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4 December 2017

published in

Neuromuscular Disorders

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4 December 2017

volume

13

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4 December 2017

issue

7-8

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4 December 2017

page(s)

545-553

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The spectrum and diagnosis of acid maltase deficiency.

4 December 2017

cites work

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

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Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance.

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7 January 2021

Analysis of glycogen storage disease by in vivo 13C NMR: comparison of normal volunteers with a patient

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Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy

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7 January 2021

In vivo 13C-NMR evaluation of glycogen content in a patient with glycogen storage disease

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7 January 2021

Absolute quantification of the hepatic glycogen content in a patient with glycogen storage disease by 13C magnetic resonance spectroscopy.

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7 January 2021

White blood cells and the diagnosis of alpha-glucosidase deficiency

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7 January 2021

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

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7 January 2021

Muscle glycogen recovery after exercise during glucose and fructose intake monitored by 13C-NMR

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7 January 2021

Direct measurement of high-energy phosphate compounds in patients with neuromuscular disease

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7 January 2021

Electromagnetic fields of surface coilin vivo NMR at high frequencies

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7 January 2021

Sensitivity and power deposition in a high-field imaging experiment

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7 January 2021

Mapping of metabolites in whole animals by 31P NMR using surface coils

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7 January 2021

Excitation characteristics of adiabatic half-passage RF pulses used in surface coil MR spectroscopy. Application to13C detection of glycogen in rat liver

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7 January 2021

Is in vivo nuclear magnetic resonance spectroscopy currently a quantitative method for whole-body carbohydrate metabolism?

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7 January 2021

The influence of lysosomes on glycogen metabolism

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7 January 2021

Nuclear magnetic resonance relaxation of glycogen H1 in solution

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7 January 2021

13C NMR relaxation times of hepatic glycogen in vitro and in vivo

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7 January 2021

Structure and metabolism of mammalian liver glycogen monitored by carbon-13 nuclear magnetic resonance

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7 January 2021

1H NMR visibility of mammalian glycogen in solution

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7 January 2021

1H NMR spectroscopy study of the dynamic properties of glycogen in solution by steady-state magnetisation measurement with off-resonance irradiation

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7 January 2021

Molecular and metabolic aspects of lysosomal glycogen

1 reference

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7 January 2021

Rat skeletal muscle lysosomes contain glycogen

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7 January 2021

In situ 13C NMR quantification of hepatic glycogen

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7 January 2021

Validation of 13C NMR measurements of liver glycogen in vivo

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7 January 2021

13C NMR visibility of rabbit muscle glycogen in vivo

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7 January 2021

Validation of 13C NMR measurement of human skeletal muscle glycogen by direct biochemical assay of needle biopsy samples

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7 January 2021

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

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7 January 2021

The effect of age on biochemical and morphological changes in the semitendinosus muscle of cattle with generalized glycogenosis type II

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7 January 2021

Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene

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7 January 2021

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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7 January 2021

Towards a molecular therapy for glycogen storage disease type II (Pompe disease).

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

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7 January 2021

10.1016/S0960-8966(03)00069-5

Identifiers

DOI

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4 December 2017

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