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Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutationsKHEDHIRI, S; CHKIOUA, L; BOUZIDI, H et al.Pathologie et biologie. 2012, Vol 60, Num 3, pp 190-192, issn 0369-8114, 3 p.Article
EXOCYTOSIS IS IMPAIRED IN MUCOPOLYSACCHARIDOSIS IIIA MOUSE CHROMAFFIN CELLSKEATING, D. J; WINTER, M. A; HEMSLEY, K. M et al.Neuroscience. 2012, Vol 227, pp 110-118, issn 0306-4522, 9 p.Article
TYPICAL IMAGING FEATURES IN HUNTER'S SYNDROMEDE COCKER, L; HOFKENS, P. J; VAN DEN BERGH, V et al.JBR-BTR (Bruxelles). 2010, Vol 93, Num 3, pp 128-129, issn 1780-2393, 2 p.Article
Steps Forward in Pompe Disease: 3rd European SymposiumMÜLLER-FELBER, Wolfgang; SCHOSER, Benedikt.Clinical therapeutics. 2010, Vol 32, issn 0149-2918, 51 p., SUPBConference Proceedings
Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesisVILLANI, Guglielmo R. D; DI DOMENICO, Carmela; MUSELLA, Annapaola et al.Brain research. 2009, Vol 1279, pp 99-108, issn 0006-8993, 10 p.Article
Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type IbSO YOUN KIM; HYUN SIK JUN; MEAD, Paul A et al.Blood. 2008, Vol 111, Num 12, pp 5704-5711, issn 0006-4971, 8 p.Article
Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndromeDAO PAN; SCIASCIA, Anthony; VORHEES, Charles V et al.Brain research. 2008, Vol 1188, pp 241-253, issn 0006-8993, 13 p.Article
The effect of diet on total antioxidant status, erythrocyte membrane Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemiaSCHULPIS, Kleopatra H; MICHELAKAKIS, Helen; TSAKIRIS, Theodore et al.Clinical nutrition (Edinburgh). 2005, Vol 24, Num 1, pp 151-157, issn 0261-5614, 7 p.Article
Mitochondrial respiratory-chain diseasesDIMAURO, Salvatore; SCHON, Eric A.The New England journal of medicine. 2003, Vol 348, Num 26, pp 2656-2668, issn 0028-4793, 13 p.Article
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testingTARNOPOLSKY, Mark; STEVENS, Leslie; MACDONALD, Jay R et al.Muscle & nerve. 2003, Vol 27, Num 3, pp 359-366, issn 0148-639X, 8 p.Article
Verbal dyspraxia and galactosemiaWEBB, Amy Leigh; SINGH, Rani H; KENNEDY, Mary Jane et al.Pediatric research. 2003, Vol 53, Num 3, pp 396-402, issn 0031-3998, 7 p.Article
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literatureVAN DEN HOUT, Hannerieke M. P; HOP, Wim; VAN DER PLOEG, Ans T et al.Pediatrics (Evanston). 2003, Vol 112, Num 2, pp 332-340, issn 0031-4005, 9 p., 1Article
A nonischemic forearm exercise test for McArdle diseaseKAZEMI-ESFARJANI, Pedram; SKOMOROWSKA, Elwira; JENSEN, Tina Dysgaard et al.Annals of neurology. 2002, Vol 52, Num 2, pp 153-159, issn 0364-5134Article
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish populationEDELMANN, Lisa; JIANLI DONG; DESNICK, Robert J et al.American journal of human genetics. 2002, Vol 70, Num 4, pp 1023-1027, issn 0002-9297Article
Clinical variability in mucolipidosis III (pseudo-hurler polydystrophy)TYLKI-SZYMANSKA, Anna; CZARTORYSKA, Barbara; GROENER, Johanna E. M et al.American journal of medical genetics. 2002, Vol 108, Num 3, pp 214-218, issn 0148-7299Article
Consensus guidelines for management of glycogen storage disease type 1b: European Study on Glycogen Storage Disease Type 1VISSER, Gepke; RAKE, Jan Peter; LABRUNE, Philippe et al.European journal of pediatrics. Supplement. 2002, Vol 161, Num 1, pp S120-S123, issn 0943-9676Article
Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopeniaERKAN, Tülay; AKTUGLU, Cigdem; MAHIR GÜLCAN, E et al.Journal of adolescent health. 2002, Vol 31, Num 4, pp 378-380, issn 1054-139XArticle
Glycogen storage disease type I: diagnosis and phenotype/genotype correlationMATERN, Dietrich; SEYDEWITZ, Hans Hermann; BALI, Deeksha et al.European journal of pediatrics. Supplement. 2002, Vol 161, Num 1, pp S10-S19, issn 0943-9676Article
Is glycogen storage disease 1a associated with atherosclerosis?UBELS, Froukje L; RAKE, Jan Peter; SLAETS, Joris P. J et al.European journal of pediatrics. Supplement. 2002, Vol 161, Num 1, pp S62-S64, issn 0943-9676Article
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patientsDEN BOER, Margarethe E. J; WANDERS, Ronald J. A; MORRIS, Andrew A. M et al.Pediatrics (Evanston). 2002, Vol 109, Num 1, pp 99-104, issn 0031-4005Article
More questions: 10 years later from glycogen storage disease patient support groups in EuropePHILLIPS, Ann.European journal of pediatrics. Supplement. 2002, Vol 161, Num 1, pp S102-S105, issn 0943-9676Article
Spontaneous second wind and glucose-induced second second wind in McArdle disease: Oxidative mechanismsHALLER, Ronald G; VISSING, John.Archives of neurology (Chicago). 2002, Vol 59, Num 9, pp 1395-1402, issn 0003-9942Article
26-jährige Patientin mit unklarer Transaminasen-Erhöhunq = 26-year-old female patient with elevated liver enzymesMARTIN, K; SCHLOTTER, B; MÜLLER-HÖCKER, J et al.Zeitschrift für Gastroenterologie. 2002, Vol 40, Num 10, pp 885-890, issn 0044-2771, 6 p.Article
Low levels of nitric oxide and carbon monoxide in α1-antitrypsin deficiencyMACHADO, Roberto F; STOLLER, James K; LASKOWSKI, Daniel et al.Journal of applied physiology (1985). 2002, Vol 93, Num 6, pp 2038-2043, issn 8750-7587, 6 p.Article
Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversibleHEUER, Gregory G; PASSINI, Marco A; KANLI JIANG et al.Annals of neurology. 2002, Vol 52, Num 6, pp 762-770, issn 0364-5134, 9 p.Article