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Inborn errors of metabolism : the flux from Mendelian to complex diseasesLANPHER, Brendan; BRUNETTI-PIERRI, Nicola; LEE, Brendan et al.Nature reviews. Genetics (Print). 2006, Vol 7, Num 6, pp 449-460, issn 1471-0056, 12 p.Article

CONTRIBUTION A L'ETUDE DE LA CARNOSINEMIE AVEC CARNOSINURIE A PROPOS D'UN CASLEININGER GINISTY MARIE LAURE.sd; FRA; PARIS: ETUDIANTS-SERVICES; DA. S.D.; 180; 68 P.-ILL.; 30 CM; BIBL. 16 REF.; TH.: MED./PARIS 6/1978Thesis

CITRULLINEMIA.LEIBOWITZ J; THOENE J; SPECTOR E et al.1978; VIRCHOWS ARCH., A; DTSCH.; DA. 1978; VOL. 377; NO 3; PP. 249-258; BIBL. 17 REF.Article

LES MUCOPOLYSACCHARIDOSES.GAJDOS A.1977; NOUV. PRESSE MED.; FR.; DA. 1977; VOL. 6; NO 20; PP. 1745-1752 (4P.); BIBL. 10 REF.Article

Actualités sur l'hémochromatose = Update on hemochromatosisLOREAL, Olivier; LE LAN, Caroline; TROADEC, Marie-Bérengère et al.Gastroentérologie clinique et biologique. 2004, Vol 28, Num 5, pp D92-D102, issn 0399-8320, SUPArticle

DIAGNOSTIC PRENATAL D'UNE MALADIE LYSOSOMIALE: LA FUCOSIDOSE.CHVEDER P.1977; ; S.L.; DA. 1977; PP. 1-59; BIBL. 7 P.; (THESE DOCT. MED.; PARIS VI)Thesis

LE DEFICIT CONGENITAL EN ENTEROKINASE.GODDON R.1977; PEDIATRIE; FR.; DA. 1977; VOL. 32; NO 3; PP. 297-301; BIBL. 26 REF.Article

Proteases in human diseasePLEBANI, Mario.Clinica chimica acta. 2000, Vol 291, Num 2, issn 0009-8981, 131 p.Conference Proceedings

MR findings in cardiac amyloidosisVANDEN DRIESEN, Rohan I; SLAUGHTER, Richard E; STRUGNELL, Wendy E et al.American journal of roentgenology (1976). 2006, Vol 186, Num 6, pp 1682-1685, issn 0361-803X, 4 p.Article

Amylose pulmonaire = Pulmonary amyloidosisELYES, Hamayed; BRILLET, Pierre-Yves; FOUCHER, Jacques et al.La Presse médicale (1983). 2006, Vol 35, Num 3, pp 547-548, issn 0755-4982, 2 p., CAH2Article

Dialysis-related amyloidosis revisitedKISS, Emilia; KEUSCH, Gèrald; ZANETTI, Marco et al.American journal of roentgenology (1976). 2005, Vol 185, Num 6, pp 1460-1467, issn 0361-803X, 8 p.Article

Amyloid ForumClinical neuropathology. 1997, Vol 16, Num 1, pp 49-52, issn 0722-5091Conference Proceedings

Primary hyperoxaluria type IWATTS, R. W. E.Quarterly journal of medicine. 1994, Vol 87, Num 10, pp 593-600, issn 0033-5622Article

Dosage de l'homocystéine plasmatique dans l'exploration des thromboses du sujet jeune = Plasma homocysteine assay in the exploration of thrombosis in young subjectsBIENVENU, T; ANKRI, A; CHADEFAUX, B et al.La Presse médicale (1983). 1991, Vol 20, Num 21, pp 985-988, issn 0755-4982Article

Enfermedades hereditarias lisosomales en México. III, Diagnóstico de laboratorio para esfingolipidosisELENA ZETINA, M; GONZALEZ-NORIEGA, A.Revista de investigacion clinica. 1991, Vol 43, Num 1, pp 52-60, issn 0034-8376Article

FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY.HOPWOOD NJ; HOLZMAN I; DRASH AL et al.1977; AMER. J. DIS. CHILD.; U.S.A.; DA. 1977; VOL. 131; NO 4; PP. 418-421; BIBL. 20 REF.Article

Detection of urea cycle enzymopathies in childhoodTRAUNER, D. A; SELF, T. W.Archives of neurology (Chicago). 1984, Vol 41, Num 7, pp 758-760, issn 0003-9942Article

Une fausse hémochromatoseGRANEL, B; ROSSI, P; COUDERC, A.-L et al.La Revue de médecine interne (Paris). 2005, Vol 26, pp S244-S245, issn 0248-8663, SUP2Conference Paper

Flat, folded or failedBERRY, Colin.QJM (Oxford. 1994. Print). 2002, Vol 95, Num 12, pp 837-838, issn 1460-2725, 2 p.Article

L'hémochromatose génétique : aspects actuels = Primary hemochromatosisSCHILLIO, Y.Gazette médicale (Paris). 1992, Vol 99, Num 34, pp 44-48, issn 0760-758X, 4 p.Article

G-6-PD Bangkok: clinical follow up and family studyPHUMARA TALALAK.Chot Mai Het Thang Phaet. 1983, Vol 66, Num 8, pp 429-434, issn 0125-2208Article

Primary tracheal amyloidosisWINTERS, Ryan; ASLAM, Rizwan.Archives of otolaryngology, head & neck surgery. 2011, Vol 137, Num 9, pp 959-960, issn 0886-4470, 2 p.Article

Cystatin C modulates cerebral β-amyloidosisKAESER, Stephan A; HERZIG, Martin C; COOMARASWAMY, Janaky et al.Nature genetics. 2007, Vol 39, Num 12, pp 1437-1439, issn 1061-4036, 3 p.Article

Non-HFE hemochromatosisPIETRANGELO, Antonello.Hepatology (Baltimore, Md.). 2004, Vol 39, Num 1, pp 21-29, issn 0270-9139, 9 p.Article

Selective screening for inborn errors of metabolism. Interntional symposiumEuropean journal of pediatrics. Supplement. 1994, Vol 153, Num 1, issn 0943-9676, 102 p.Conference Proceedings

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