U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adult Glycogen Storage Disease Type II

MedGen UID:
148251
•Concept ID:
C0751172
•
Disease or Syndrome
Synonym: Glycogen Storage Disease Type II, Adult

Professional guidelines

PubMed

Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article

Recent clinical studies

Etiology

Quantitative assessment of lingual strength in late-onset Pompe disease.
Jones HN, Crisp KD, Asrani P, Sloane R, Kishnani PS
Muscle Nerve 2015 May;51(5):731-5. Epub 2015 Jan 16 doi: 10.1002/mus.24523. PMID: 25399907

Diagnosis

Quantitative assessment of lingual strength in late-onset Pompe disease.
Jones HN, Crisp KD, Asrani P, Sloane R, Kishnani PS
Muscle Nerve 2015 May;51(5):731-5. Epub 2015 Jan 16 doi: 10.1002/mus.24523. PMID: 25399907
Searching for molecular abnormalities in genetic diseases by the use of a double labeling technique. II. Deficiency of a basic protein in fibroblasts of patients with Pompe's disease.
Pena SD, Quilliam NM, Hamerton JL, Wrogemann K
Pediatr Res 1978 Sep;12(9):894-8. doi: 10.1203/00006450-197809000-00002. PMID: 362358

Therapy

Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis.
Ravaglia S, Danesino C, Moglia A, Costa A, Cena H, Maccarini L, Carlucci A, Pichiecchio A, Bini P, De Filippi P, Rossi M
Eur J Neurol 2010 Jul;17(7):957-62. Epub 2010 Feb 10 doi: 10.1111/j.1468-1331.2010.02959.x. PMID: 20158513

Prognosis

Quantitative assessment of lingual strength in late-onset Pompe disease.
Jones HN, Crisp KD, Asrani P, Sloane R, Kishnani PS
Muscle Nerve 2015 May;51(5):731-5. Epub 2015 Jan 16 doi: 10.1002/mus.24523. PMID: 25399907

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...