Pascal and Francis Bibliographic Databases

Help

Search results

Your search

ct.\*:("Carbohydrates (enzymatic deficiencies). Glycogenosis")

Filter

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 2031

  • Page / 82
Export

Selection :

  • and

Pristanic acid promotes oxidative stress in brain cortex of young rats: A possible pathophysiological mechanism for brain damage in peroxisomal disordersLEIPNITZ, Guilhian; UMPIERREZ AMARAL, Alexandre; GONCALVES FERNANDES, Carolina et al.Brain research. 2011, Vol 1382, pp 259-265, issn 0006-8993, 7 p.Article

NOVEL MUTATION IN KCNA1 CAUSES EPISODIC ATAXIA WITH PAROXYSMAL DYSPNEASHOOK, Steven J; MAMSA, Hafsa; JEN, Joanna C et al.Muscle & nerve. 2008, Vol 37, Num 3, pp 399-402, issn 0148-639X, 4 p.Article

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channelDONG, Xian-Ping; XIPING CHENG; MILLS, Eric et al.Nature (London). 2008, Vol 455, Num 7215, pp 992-996, issn 0028-0836, 5 p.Article

Mucopolysaccharidose de type I: intérêt d'un diagnostic et d'une enzymothérapie substitutive précoces. À propos d'un cas = Hurler syndrome : Early diagnosis and successful enzyme replacement therapy: A new therapeutic approach. Case reportDUPONT, C; EL HACHEM, C; HARCHAOUI, S et al.Archives de pédiatrie (Paris). 2008, Vol 15, Num 1, pp 45-49, issn 0929-693X, 5 p.Article

Further cases of Neighbor mutations in mucopolysaccharidosis type IISCHWARTZ, Ida V. D; LIMA, Luciane C; LEISTNER-SEGAL, Sandra et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 15, pp 1684-1686, issn 1552-4825, 3 p.Article

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporterMARTINEZ-DUNCKER, Ivan; VERONIQUE PILLER, Thierry Dupré; PILLER, Friedrich et al.Blood. 2005, Vol 105, Num 7, pp 2671-2676, issn 0006-4971, 6 p.Article

The molecular basis of mucopolysaccharidosis type I in two thai patientsKETUDAT CAIRNS, James R; KEERATICHAMROEN, Siriporn; SVASTI, Jisnuson et al.Southeast Asian journal of tropical medicine and public health. 2005, Vol 36, Num 5, pp 1308-1312, issn 0125-1562, 5 p.Article

Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)WRAITH, James E; CLARKE, Lorne A; BRAAKMAN, Tanja et al.The Journal of pediatrics. 2004, Vol 144, Num 5, pp 581-588, issn 0022-3476, 8 p.Article

15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizuresBARNESS, Lewis A; PATTERSON, Robert F; BARNESS, Enid Gilbert et al.American journal of medical genetics. 2003, Vol 116A, Num 4, pp 391-398, issn 0148-7299, 8 p.Article

Analysis of Sanfilippo A gene mutations in a large pedigreeDI NATALE, P; VILLANI, G. R. D; DI DOMENICO, C et al.Clinical genetics. 2003, Vol 63, Num 4, pp 314-318, issn 0009-9163, 5 p.Article

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndromeRICCI, Verena; FILOCAMO, Mirella; REGIS, Stefano et al.American journal of medical genetics. 2003, Vol 120A, Num 1, pp 84-87, issn 0148-7299, 4 p.Article

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapyWINKEL, Léon P. F; KAMPHOVEN, Joep H. J; VAN DEN HOUT, Hannerieke J. M. P et al.Muscle & nerve. 2003, Vol 27, Num 6, pp 743-751, issn 0148-639X, 9 p.Article

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG 1 or six other candidate genes explain only a minority of casesBURWINKEL, Barbara; BIN HU; SCHROERS, Anja et al.European journal of human genetics. 2003, Vol 11, Num 7, pp 516-526, issn 1018-4813, 11 p.Article

Glucose transporter type 1 (GLUT-1) deficiencyGORDON, Neil; NEWTON, Richard W.Brain & development (Tokyo. 1979). 2003, Vol 25, Num 7, pp 477-480, issn 0387-7604, 4 p.Article

Reversible infantile hypoglycorrhachia: Possible transient disturbance in glucose transport?KLEPPER, Jörg; DE VIVO, Darryl C; WEBB, David W et al.Pediatric neurology. 2003, Vol 29, Num 4, pp 321-325, issn 0887-8994, 5 p.Article

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle diseaseFERNANDEZ-CADENAS, I; ANDREU, A. L; GAMEZ, J et al.Neurology. 2003, Vol 61, Num 10, pp 1432-1434, issn 0028-3878, 3 p.Article

Dietary calcium in galactosaemiaRUTHERFORD, P. J; DAVIDSON, D. C; MATTHAI, S. M et al.Journal of human nutrition and dietetics (Print). 2002, Vol 15, Num 1, pp 39-42, issn 0952-3871Article

Mucolipidosis IV: Novel mutation and diverse ultrastructural spectrum in the skinBARGAL, R; GOEBEL, H. H; LATTA, E et al.Neuropediatrics. 2002, Vol 33, Num 4, pp 199-202, issn 0174-304XArticle

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaBRIONES, P; VILASECA, M. A; MATTHIJS, G et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 8, pp 635-646, issn 0141-8955, 12 p.Article

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutationsVLADUTIU, Georgirene D; QUACKENBUSH, Elizabeth J; HAINLINE, Bryan E et al.The Journal of pediatrics. 2002, Vol 141, Num 5, pp 734-736, issn 0022-3476, 3 p.Article

Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case reportPOURJAVAN, S; FRYNS, J. P; VAN HOVE, J. L. K et al.Bulletin de la Société belge d'ophtalmologie. 2002, Num 286, pp 19-24, issn 0081-0746, 6 p.Article

Simple method for detection of mutations causing hereditary fructose intoleranceKULLBERG-LINDH, C; HANNOUN, C; LINDH, M et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 7, pp 571-575, issn 0141-8955, 5 p.Article

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type IbCHEN, Li-Yuan; PAN, Chi-Jiunn; SHIEH, Jeng-Jer et al.Human molecular genetics (Print). 2002, Vol 11, Num 25, pp 3199-3207, issn 0964-6906, 9 p.Article

Utilization of cornstarch in glycogen storage disease type IaBODAMER, Olaf A; FEILLET, Francois; LANE, Rebecca E et al.European journal of gastroenterology & hepatology. 2002, Vol 14, Num 11, pp 1251-1256, issn 0954-691X, 6 p.Article

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT→GC) in combination with rare IVS10 (+1GT→CT)STROPPIANO, Marina; BONUCCELLI, Gloria; CORSOLINI, Fabio et al.American journal of medical genetics. 2001, Vol 101, Num 1, pp 55-58, issn 0148-7299Article

  • Page / 82