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  1. ... et al; ACMG Work Group on Management of Pompe Disease. Pompe disease diagnosis and management guideline. Genet Med. 2006 ... et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  2. ... II, and Danon's). onset in childhood (MPS, Pompe's, Gaucher's, Fabry's, Niemann-Pick type ... tool=bestpractice.com onset in adolescence (Fabry's, Pompe's, Gaucher's types 1, 3, MPS, Niemann- ...
    Source: BMJ Best Practice
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  3. ... MPS] II, and Danon). onset in childhood (MPS, Pompe, Gaucher, Fabry, Niemann-Pick type A) Age <1 ... 15025684?tool=bestpractice.com onset in adolescence (Fabry, Pompe, Gaucher types 1, 3, MPS, Niemann-Pick types ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... function, quality of life, and mortality is limited. Pompe's disease General and supportive care for neonates ... Quan S. Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. 2017 Nov 20;( ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... to start treatment, dose, and impact of antibodies. Pompe's disease ERT extends the life of sufferers, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... DDx of Tay-Sachs) Muscular dystrophies (DDx of Pompe's) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Family history ... Duchenne's muscular dystrophy. Muscular dystrophies (DDx of Pompe's) Use of this content is subject to ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... plasma Hex4 levels are increased in patients with Pompe's disease. Plasma levels of glucosylceramide are elevated ... in leukocytes: for example, PAS-positive lymphocytes in Pompe's disease; abnormal leukocyte appearances in blood/marrow ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  8. ... diagnosis is often missed in childhood. [ 13] [ 14] • Pompe's disease has an estimated frequency of 1/ ... deficiency) • MPS IX/Natowicz syndrome (hyaluronidase deficiency). Other • Pompe's disease/glycogen storage disease type 2 (acid ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... and lung disease, and hearing impairment/sudden deafness. Pompe's disease Also known as glycogen storage disease ... cardiomyopathy. [38] van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11;372(9646): ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... plasma Hex4 levels are increased in patients with Pompe disease. Plasma levels of glucosylceramide are elevated in ... in leukocytes: for example, PAS positive lymphocytes in Pompe disease; abnormal leukocyte appearances in blood/marrow in ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
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