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

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

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

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

AMYLOSE = AmyloïdosisJACCARD, Arnaud; BRIDOUX, Frank.La Revue du praticien (Paris). 2014, Vol 64, Num 4, pp 575-581, issn 0035-2640, 7 p.Article

Yet another case of haemochromatosis?FOWELL, A. J; BATEMAN, A. C; GRIFFITHS, W. J et al.Gut. 2011, Vol 60, Num 2, issn 0017-5749, 155, 188 [2 p.]Article

HaemochromatosisADAMS, Paul C; BARTON, James C.Lancet (British edition). 2007, Vol 370, Num 9602, pp 1855-1860, issn 0140-6736, 6 p.Article

Subglottic amyloidosisMAHANTA, Vibhuti Ranjan; SHARP, Jerry; ROBINSON, Ivan A et al.Archives of otolaryngology, head & neck surgery. 2006, Vol 132, Num 9, issn 0886-4470, 1013,1015-1016 [3 p.]Article

Proceedings: Carnitine, enzymes and isoenzymes in disease/1st European congress on clinical enzymology, San Lorenzo de El Escorial June 24-28, 1985GOLDBERG, D. M; DE LA MORENA, E; WERNER, M et al.Advances in clinical enzymology. 1986, Vol 4, issn 0250-4197, 189 p.Conference Proceedings

THE DIETARY TREATMENT OF HEPATIC GLYCOGEN SYNTHETASE DEFICIENCY.AYNSLEY GREEN A; WILLIAMSON DH; GITZELMANN R et al.1977; HELV. PAEDIATR. ACTA; SUISSE; DA. 1977; VOL. 32; NO 1; PP. 71-75; ABS. ALLEM. FR.; BIBL. 5 REF.Article

Non-HFE hemochromatosis: Pathophysiological and diagnostic aspectsBARDOU-JACQUET, Edouard; BEN ALI, Zeineb; BEAUMONT-EPINETTE, Marie-Pascale et al.Clinics and research in hepatology and gastroenterology (Print). 2014, Vol 38, Num 2, pp 143-154, issn 2210-7401, 12 p.Article