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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

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

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

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

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

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

DISORDERS OF GALACTOSE METABOLISM.RENNERT OM.1977; ANN. CLIN. LAB. SCI.; U.S.A.; DA. 1977; VOL. 7; NO 6; PP. 443-448; BIBL. 33 REF.Article

THERAPY OF UREA CYCLE ENZYMOPATHIES: THREE CASE STUDIESBATSHAW ML; PAINTER MJ; SPROUL GJ et al.1981; JOHNS HOPKINS MED. J.; ISSN 0021-7263; USA; DA. 1981; VOL. 148; NO 1; PP. 34-40; BIBL. 20 REF.Article

INSUFFICIENZA RENALE ACUTA DA RABDOMIOLISI PER DEFICIT DI CARNITIN-PALMITILTRANSFERASI (CPT) = INSUFFISANCE RENALE AIGUE PAR RHABDOMYOLYSE DUE A UN DEFICIT DE CARNITINE-PALMITYLTRANSFERASE (CPT)TAFURI A; DELLAVOLPE M; IBERTI M et al.1981; MINERVA NEFROL.; ISSN 0026-4873; ITA; DA. 1981; VOL. 28; NO 4; PP. 497-502; ABS. ENG; BIBL. 22 REF.Article

DEFEKTE UND DISPOSITIONEN. = DEFAUTS ET REMEDESWEGNER W.1976; TIERAERZTL. UMSCH.; DTSCH.; DA. 1976; VOL. 31; NO 12; PP. 556-562; BIBL. 1 P. 1/2Article

TRIMETHYLAMINURIA: FISHY ODORS IN CHILDREN.LEE CWG; YU JS; TURNER BB et al.1976; NEW ENGL. J. MED.; U.S.A.; DA. 1976; VOL. 295; NO 17; PP. 937-938; BIBL. 12 REF.Article

GLYCOGEN STORAGE DISEASE TYPE IBBUCHINO JJ; BROWN BI; VOLK DM et al.1983; ARCHIVES OF PATHOLOGY AND LABORATORY MEDICINE; ISSN 0096-8528; USA; DA. 1983; VOL. 107; NO 6; PP. 283-285; BIBL. 9 REF.Article

CORRELATION BETWEEN ANGIOTENSIN-CONVERTING ENZYME ACTIVITY AND HISTOLOGIC PATTERNS IN BENIGN PROSTATIC HYPERTROPHY TISSUEYOKOYAMA M; TAKADA Y; IWATA H et al.1982; J. UROL.; ISSN 0022-5347; USA; DA. 1982; VOL. 127; NO 2; PP. 368-370; BIBL. 8 REF.Article

EVIDENCE FOR ACTIVE PURINE NUCLEOSIDE CYCLES IN HUMAN MONONUCLEAR CELLS AND CULTURED FIBROBLASTSBARANKIEWICZ J; GELFAND EW; ISSEKUTZ A et al.1982; JOURNAL OF BIOLOGICAL CHEMISTRY; ISSN 0021-9258; USA; DA. 1982; VOL. 257; NO 19; PP. 11597-11600; BIBL. 12 REF.Article

ANIMAL MODEL OF HUMAN DISEASE: MANNOSIDOSIS: SWAINSONINE-INDUCED MANNOSIDOSISHUXTABLE CR; DORLING PR.1982; AM. J. PATHOL.; ISSN 0002-9440; USA; DA. 1982; VOL. 102; NO 1; PP. 124-126; BIBL. 12 REF.Article

INSTESTINALE ENZYMOPATHIEN BEIM KINDE. = ENZYMOPATHIES INTESTINALES CHEZ L'ENFANTSCHREIER K.1976; MUENCH. MED. WSCHR.; DTSCH.; DA. 1976; VOL. 118; NO 52-53; PP. 1695-1702; ABS. ANGL.; BIBL. 18 REF.Article

INCREASED INCIDENCE OF CATARACTS IN MALE SUBJECTS DEFICIENT IN GLUCOSE-6-PHOSPHATE DEHYDROGENASEORZALESI N; SORCINELLI R; GUISO G et al.1981; ARCH. OPHTHALMOL.; ISSN 0003-9950; USA; DA. 1981; VOL. 99; NO 1; PP. 69-70; BIBL. 17 REF.Article

NEW METHOD FOR EVALUATION OF CHYMOTRYPSIN DEFICIENCY IN DOGSSTROMBECK DR.1978; J. AMER. VETER. MED. ASS.; USA; DA. 1978; VOL. 173; NO 10; PP. 1319-1323; BIBL. 13 REF.Article

SUCRASE-ISOMALTASE DEFICIENCY. A FOLLOW-UP REPORTKILBY A; BURGESS EN; WIGGLESWORTH S et al.1978; ARCH. DIS. CHILDH.; GBR; DA. 1978; VOL. 53; NO 8; PP. 677-679; BIBL. 8 REF.Article

OUTCOME OF MAPLE SYRUP URINE DISEASENAUGHTEN ER; JENKINS J; FRANCIS DEM et al.1982; ARCHIVES OF DISEASES IN CHILDHOOD; ISSN 0003-9888; GBR; DA. 1982; VOL. 57; NO 12; PP. 918-921; BIBL. 13 REF.Article

THE GAMMA -GLUTAMYL CYCLE AND AMINO ACID TRANSPORT. STUDIES OF FREE. STUDIES OF FREE AMINO ACID GAMMA GLUTAMYL CYSTEINE AND GLUTATHIONE IN ERYTHROCYTESFROM PATIENTS WITH 5-OXOPROLINURIA (GLUTATHIONE SYNTHETASE DEFICIENCY)HAGENFELDT L; LARSSON A; ANDERSSON R et al.1978; NEW ENGL. J. MED.; USA; DA. 1978; VOL. 299; NO 11; PP. 587-590; BIBL. 28 REF.Article

PARTIAL DEFICIENCY OF ADENINE PHOSPHORIBOSYLTRANSFERASE IN MAN.FOX IH; LACROIX S; PLANET G et al.1977; MEDECINE; U.S.A.; DA. 1977; VOL. 56; NO 6; PP. 515-526; BIBL. 2 P.Article

GENETISCHE ASPEKTE DES KONGENITALEN ADRENOGENITALEN SYNDROMS. = ASPECT GENETIQUE DU SYNDROME ADRENOGENITAL CONGENITALZACHMANN M; PRADER A.1977; PRAXIS; SCHWEIZ; DA. 1977; VOL. 66; NO 27; PP. 809-813; ABS. ANGL.; BIBL. 20 REF.Article

DEFICIENCES HEREDITAIRES EN ENZYMES DE LA BIOSYNTHESE DU COLLAGENE. "LES SYNDROMES" D'EHLERS-DANLOS.GAJDOS A.1977; NOUV. PRESSE MED.; FR.; DA. 1977; VOL. 6; NO 34; PP. 3101-3105; ABS. ANGL.; BIBL. 16 REF.Article

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