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Journal Abstract Search
349 related items for PubMed ID: 16977780
1. [Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease]. Merkli H, Pál E, Nagy F, Horváth R, Várdi VK, Komoly S, Illés Z. Orv Hetil; 2006 Jul 30; 147(30):1421-4. PubMed ID: 16977780 [Abstract] [Full Text] [Related]
2. [A retrospective study of six patients with late-onset Pompe disease]. Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P. Rev Neurol (Paris); 2008 Apr 30; 164(4):336-42. PubMed ID: 18439925 [Abstract] [Full Text] [Related]
4. Late-onset acid maltase deficiency in a Chinese girl. Wong KS, Lai C, Ng HK. Clin Exp Neurol; 1991 Apr 30; 28():210-8. PubMed ID: 1821829 [Abstract] [Full Text] [Related]
5. Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II. di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G. Acta Neurol (Napoli); 1993 Aug 30; 15(4):258-67. PubMed ID: 8249669 [Abstract] [Full Text] [Related]
6. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F. Am J Med Genet; 1997 Oct 17; 72(2):135-42. PubMed ID: 9382133 [Abstract] [Full Text] [Related]
7. Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. Kostera-Pruszczyk A, Opuchlik A, Lugowska A, Nadaj A, Bojakowski J, Tylki-Szymanska A, Kaminska A. Neuromuscul Disord; 2006 Apr 17; 16(4):282-5. PubMed ID: 16531044 [Abstract] [Full Text] [Related]
8. Acid maltase deficiency in adults. A study of five cases. Lenders MB, Martin JJ, de Barsy T, Ceuterick C, Marchau M. Acta Neurol Belg; 1986 Apr 17; 86(3):152-60. PubMed ID: 3090848 [Abstract] [Full Text] [Related]
9. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG. Neurology; 2005 Jan 25; 64(2):368-70. PubMed ID: 15668445 [Abstract] [Full Text] [Related]
10. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA. Acta Neurol Belg; 2006 Jun 25; 106(2):82-6. PubMed ID: 16898258 [Abstract] [Full Text] [Related]
11. [Adult form of Pompe disease]. Ziółkowska-Graca B, Kania A, Zwolińska G, Nizankowska-Mogilnicka E. Pneumonol Alergol Pol; 2008 Jun 25; 76(5):396-9. PubMed ID: 19003770 [Abstract] [Full Text] [Related]
14. [Respiratory failure due to acid maltase deficiency]. Perez T, Marié E, Lacour A, Maurage CA, Wallaert B. Rev Mal Respir; 2012 Jan 25; 29(1):74-8. PubMed ID: 22240224 [Abstract] [Full Text] [Related]
15. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890 [Abstract] [Full Text] [Related]
16. [Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)]. Fischer P, Eich W, Haass M, Herzog W. Dtsch Med Wochenschr; 1999 Aug 06; 124(31-32):925-9. PubMed ID: 10480012 [Abstract] [Full Text] [Related]
17. Enzyme replacement therapy for infantile-onset pompe disease: curse or cure? Willems J, Petros A, Brierley J. Neurology; 2008 Jul 29; 71(5):380-1. PubMed ID: 18663187 [No Abstract] [Full Text] [Related]