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ANGEBORENE ENZYMDEFEKTE = DEFICITS ENZYMATIQUES CONGENITAUXKALIWODA G; KUPFAHL C.1972; DTSCHE APOTHEKER-ZTG; DTSCH.; DA. 1972; VOL. 112; NO 49; PP. 1963-1968; BIBL. 17REF.Serial Issue

BASES MOLECULAIRES DES MALADIES ENZYMATIQUES GENETIQUESDREYFUS JC.1972; BIOCHIMIE; FR.; DA. 1972; VOL. 54; NO 5-6; PP. 559-571; ABS. ANGL.; BIBL. 1P.Serial Issue

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

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

A RAPID THIN LAYER TEST FOR MACRO-AMYLASE WITH OBSERVATIONS ON THE NATURE OF MACROAMYLASE IN SIX PATIENTS = ETUDE DE LA MACROAMYLASE PAR UN PROCEDE RAPIDE EN COUCHE MINCE ET OBSERVATIONS SUR LA NATURE DE LA MACROAMYLASE CHEZ SIX MALADESLONG WB; KOWLESSAR OD.1972; GASTROENTEROLOGY; U.S.A.; DA. 1972; VOL. 63; NO 4; PP. 564-571; BIBL. 17REF.Serial Issue

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

LESSONS FROM GENETIC DISORDERS OF LYSOSOMESNEUFELD EF.1981; HARVEY LECT.; ISSN 0073-0874; USA; DA. 1981; NO 75; PP. 41-60; BIBL. 4 P.Article

FAMILIAL HYPERPHOSPHATASEMIA WITH ATELIOSIS AND HYPERMETABOLISM OF GROWING MEMBRANOUS BONE : REVIEW OF THE CLINICAL RADIOGRAPHIC AND CHEMICAL FEATURES = HYPERPHOSPHATASEMIE FAMILIALE AVEC ATELIOSE ET HYPERMETABOLISME DE L'OS MEMBRANEUX EN CROISSANCE: REVUE DES FAITS CLINIQUES RADIOGRAPHIQUES ET CHIMIQUESCAFFEY J.1972; BULL. HOSP. JOINT DIS.; U.S.A.; DA. 1972; VOL. 33; NO 2; PP. 81-110; BIBL. 18REF.Serial Issue

HEMOLYSE MASSIVE AIGUE CONSECUTIVE A L'ADMINISTRATION INTRAVEINEUSE D'ACIDE PARA-AMINO-SALICYLIQUE. COEXISTENCE DE TROIS ELEMENTS PATHOGENIQUESWIPF R; STINGHE R; FALL A et al.1976; REV. FR. MAL. RESP.; FR.; DA. 1976; VOL. 4; NO 2; PP. 149-156; ABS. ANGL.; BIBL. 14 REF.Article

ANEMIE HEMOLYTIQUE APRES TRAITEMENT ANTIBILHARZIEN PAR LE NIRIDAZOLE CHEZ UNE ANTILLAISE DEFICIENTE EN G6P.D.LAPIERRE J; HOLLER C; TOURTE SCHAEFER C et al.1976; NOUV. PRESSE MED.; FR.; DA. 1976; VOL. 5; NO 3; PP. 147-148; BIBL. 4 REF.Article

LINSENTRUEBUNGEN BEI DER GALAKTOKINASEMANGELKRANKHEIT = OPACITES CRISTALLINIENNES PAR DEFICIT DE GALACTOKINASESCHUTTE E; REIM M.1975; KLIN. MONATSBL. AUGENHEILKDE; DTSCH.; DA. 1975; VOL. 166; NO 4; PP. 553-556; ABS. ANGL.; BIBL. 12 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

PURINE OVERPRODUCTION IN MAN ASSOCIATED WITH INCREASED PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE ACTIVITY = SURPRODUCTION DE PURINES CHEZ L'HOMME, ASSOCIEE AVEC UNE AUGMENTATION DE L'ACTIVITE DE LA PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASEBECKER MA; MEYER LJ; WOOD AW et al.1973; SCIENCE; U.S.A.; DA. 1973; VOL. 179; NO 4078; PP. 1123-1126; BIBL. 30REF.Serial Issue

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

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

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