(Q58036193)

glycogen metabolic process

inferred from title

1 reference

Yoshihiko Furusawa

1

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Madoka Mori-Yoshimura

2

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Toshiyuki Yamamoto

3

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Chikako Sakamoto

4

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Mizuki Wakita

5

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Yoko Kobayashi

6

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Yutaka Fukumoto

7

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Yasushi Oya

8

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Tokiko Fukuda

9

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Hideo Sugie

10

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Yukiko K. Hayashi

11

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Ichizo Nishino

12

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Ikuya Nonaka

13

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Miho Murata

Journal of Inherited Metabolic Disease

14

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publication date

7 October 2011

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published in

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volume

35

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issue

2

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page(s)

301-310

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exact match

https://scigraph.springernature.com/pub.10.1007/s10545-011-9393-6

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cites work

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

A randomized study of alglucosidase alfa in late-onset Pompe's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9393-6

Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

21 January 2018

1 reference

12 December 2020

Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report

1 reference

12 December 2020

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

1 reference

12 December 2020

Schwere chronische respiratorische Insuffizienz bei adulter Glykogenose Typ II (Morbus Pompe)

1 reference

12 December 2020

Bite force and maxillofacial morphology in patients with Duchenne-type muscular dystrophy

1 reference

12 December 2020

A case of acid maltase deficiency (juvenile type)--immunohistochemical and biochemical study

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease

1 reference

12 December 2020

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

1 reference

12 December 2020

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

1 reference

12 December 2020

New GAA mutations in Japanese patients with GSDII (Pompe disease)

1 reference

12 December 2020

Frequent mutations in Japanese patients with acid maltase deficiency

1 reference

12 December 2020