LES ANOMALIES HEREDITAIRES DES ENZYMES DIGESTIVES1972; MED. CHIR. DIGEST.; FR.; DA. 1972; VOL. 1; NO 1; PP. 41-44; BIBL. 9REF.Serial Issue

LES DEFICITS CONGENITAUX EN FACTEURS DU COMPLEXE PROTHROMBINIQUE (FACTEURS II, V, VII ET X)GERMAIN D; THOUVEREZ JP.1972; MED. INFANT.; FR.; DA. 1972; VOL. 79; NO 9; PP. 767-773Serial Issue

HEREDITARY DISORDERS OF BILIRUBIN METABOLISMGOLLAN JL; BILLING BH.1974; ACTA HEPATO-GASTROENTEROL; ALLEM.; DA. 1974; VOL. 21; NO 5; PP. 333-338; BIBL. 2P.Article

GENETIC DISEASES OF METABOLISMRAIVIO KO; SEEGMILLER JE.1972; ANNU. REV. BIOCHEM.; U.S.A.; DA. 1972; VOL. 41; PP. 543-576; BIBL. 7P.Serial Issue

THE HEREDITARY HEMOLYTIC ANAEMIAS. MEMBRANE AND ENZYME DEFECTS = LES ANEMIES HEMOLYTIQUES HEREDITAIRES: ANOMALIES DES MEMBRANES ET DES ENZYMESMILLER DR.1972; PEDIATR. CLIN. N. AMER.; U.S.A.; DA. 1972; VOL. 19; NO 4; PP. 865-887; BIBL. 3 P. 1/2Serial Issue

UTILIZATION OF LEUKOCYTES FOR THE STUDY OF INBORN ERRORS OF METABOLISM = UTILISATION DES LEUCOCYTES POUR L'ETUDE DES ERREURS INNEES DU METABOLISMEHSIA DYY.1972; ENZYME; SWITZ.; DA. 1972; VOL. 13; NO 1-3; PP. 161-168; BIBL. 2 P.Serial Issue

BIOCHEMICAL AND METABOLIC BASIS OF FAMILIAL SPHINGOLIPIDOSES = LES BASES BIOCHIMIQUES ET METABOLIQUES DES SPHINGOLIPIDOSES FAMILIALESBRADY RO.1972; SEMINARS HEMATOL.; U.S.A.; DA. 1972; VOL. 9; NO 3; PP. 273-284; BIBL. 2P.Serial Issue

GAMMA -GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY. A CAUSE OF HEREDITARY HEMOLYTIC ANEMIA = DEFICIT EN GAMMA -GLUTAMYLCYSTEINE SYNTHETASE. UNE CAUSE D'ANEMIE HEMOLYTIQUE HEREDITAIREKONRAD PN; RICHARDS F II; VALENTINE WN et al.1972; NEW ENGL. J. MED.; U.S.A.; DA. 1972; VOL. 286; NO 11; PP. 557-561; BIBL. 25 REF.Serial Issue

LES ICTERES NON CHOLESTATIQUES, NON HEMOLYTIQUES ICTERES PAR DEFICIT ENZYMATIQUE HEPATOCYTAIRE, CONNU OU PROBABLEDARNIS F; LEVY VG.1975; PRESSE THERM. CLIMAT.; FR.; DA. 1975; VOL. 112; NO 4; PP. 180-188; BIBL. 37 REF.Article

LIPOPROTEIN DEFICIENCY DISORDERS = TROUBLES LIES A UNE INSUFFISANCE EN LIPOPROTEINESLLOYD JK.1973; CLIN. ENDOCRINOL. METABOL.; G.B.; DA. 1973; VOL. 2; NO 1; PP. 127-147; BIBL. 1P.1/2Serial Issue

OSMOTIC RESISTANCE OF ABNORMAL RED CELLS EXPOSED TO LEAD IN VITRO = RESISTANCE OSMOTIQUE D'HEMATIES PATHOLOGIQUES EXPOSEES AU PLOMB, IN VITROQAZI QH; SUAT CHENG GO; SMITH WICK EM et al.1972; BRIT. J. HAEMATOL.; G.B.; DA. 1972; VOL. 23; NO 5; PP. 631-633; BIBL. 8 REF.Serial Issue

DEGENERESCENCE PROGRESSIVE DU SYSTEME PHOTOPIQUEBABEL J; STANGOS N.1972; OPHTHALMOLOGICA; SUISSE; DA. 1972; VOL. 165; NO 3-4; PP. 392-395; ABS. ALLEM.; BIBL. 5 REF.Serial Issue

REMARQUES SUR LES ENZYMOPATHIES GENETIQUES DU GLOBULE ROUGEKAPLAN JC.1972; BIOCHIMIE; FR.; DA. 1972; VOL. 54; NO 5-6; PP. 765-773; ABS. ANGL.; BIBL. 1 P. 1/2Serial Issue

CONSIDERAZIONI SU DI UN CASO DI GRANULOCITOPENIA CRONICA GENETICA DEL LATTANTE = CONSIDERATIONS SUR UN CAS DE GRANULOCYTOPENIE CHRONIQUE GENETIQUE CHEZ UN NOURRISSONLAGHI MG; ZANIBONI MG.1971; CLIN. PEDIATR.; ITAL.; DA. 1971; VOL. 53; NO 10; PP. 363-376; ABS. FR. ANGL. ALLEM. ESP.; BIBL. 1P.Serial Issue

A HERITABLE DISORDER OF CONNECTIVE TISSUE HYDROXYLYSINE-DEFICIENT COLLAGEN DISEASE = UN TROUBLE HEREDITAIRE DU TISSU CONJONCTIF. MALADE DU COLLAGENE PAR DEFICIT EN HYDROXYLYSINEPINNELL SR; KRANE SM; KENZORA JE et al.1972; NEW ENGL. J. MED.; U.S.A.; DA. 1972; VOL. 286; NO 19; PP. 1013-1020; BIBL. 1P.Serial Issue

COMPARATIVE STUDY OF THE METABOLIC AND BACTERICIDAL CHARACTERISTICS OF SEVERELY GLUCOSE-6-PHOSPHATE DEHYDROGENASE-DEFICIENT POLYMORPHONUCLEAR LEUKOCYTES AND LEUKOCYTES FROM CHILDREN WITH CHRONIC GRANULOMATOUS DISEASE = ETUDE COMPARATIVE DES ACTIVITES METABOLIQUES ET BACTERICIDES DE GRANULOCYTES DEFICIENTS EN GLUCOSE-6-PHOSPHATE DESHYDROGENASE ET DE LEUCOCYTES D'ENFANTS ATTEINTS DE GRANULOMATOSE CHRONIQUEBAEHNER RL; JOHNSTON RB JR; NATHAN DG et al.1972; J. RETICULOENDOTHEL. SOC.; U.S.A.; DA. 1972; VOL. 12; NO 2; PP. 150-169; BIBL. 2 P. 1/2Serial Issue

LA SINDROME DI LESCH-NYHAN = LE SYNDROME DE LESCH-NYHANFAZIO A.1973; NEUROPSICHIATR. INFANT.; ITAL.; DA. 1973; NO 140; PP. 79-82; ABS. FR. ANGL.; BIBL. 6 REF.Serial Issue

CLINICAL AND BIOCHEMICAL INTERACTIONS OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND SICKLE-CELL ANEMIA = INTERACTIONS CLINIQUES ET BIOCHIMIQUES ENTRE LE DEFICIT EN GLUCOSE PHOSPHATE-6 DESHYDROGENASE ET L'ANEMIE A HEMATIES FALCIFORMESPIOMELLI S; REINDORF CA; ARZANIAN MT et al.1972; NEW ENGL. J. MED.; U.S.A.; DA. 1972; VOL. 287; NO 5; PP. 213-217; BIBL. 18REF.Serial Issue

SCREENING FOR METABOLIC DISORDERS ASSOCIATED WITH MENTAL RETARDATION = DETECTION DES DESORDRES METABOLIQUES ASSOCIES A UN RETARD MENTALHILL A; ZALESKI WA.1972; CLIN. BIOCHEM.; CANADA; DA. 1972; VOL. 5; NO 1; PP. 33-45; BIBL. 1 P. 1/2Serial Issue

HEMOLYTIC ANEMIA AND G6PD DEFICIENCY = ANEMIE HEMOLYTIQUE ET DEFICIENCE EN G6PDYOSHIDA A.1973; SUISSE; U.S.A.; DA. 1973; VOL. 179; NO 4073; PP. 532-537; BIBL. 44 REF.Serial Issue

ORNITHINE TRANSCARBAMYLASE DEFICIENCY. A CAUSE OF LETHAL NEONATAL HYPERAMMONEMIA IN MALES = DEFICIT EN ORNITHINE TRANSCARBAMYLASE. UNE CAUSE D'HYPERAMMONIEMIE NEONATALE MORTELLE DANS LE SEXE MASCULINCAMPBELL AGM; ROSENBERG LE; SNODGRASS PJ et al.1973; NEW ENGL. J. MED.; U.S.A.; DA. 1973; VOL. 288; NO 1; PP. 1-6; BIBL. 27REF.Serial Issue

COEUR ET MALADIES GENETIQUES HEREDITAIRESEMERIT I.1973; VIE MED.; FR.; DA. 1973; VOL. 54; NO 1; PP. 21-32 (8 P.); ABS. ANGL.; BIBL. 16 REF.Serial Issue

FIFTEEN CASES OF PENDRED'S SYNDROME. CONGENITAL DEAFNESS AND SPORADIC GOITER = QUINZE CAS DE SYNDROME DE PENDRED. SURDITE CONGENITALE ET GOITRE SPORADIQUEILLUM P; KIAER HW; HVIDBERG HANSEN J et al.1972; ARCH. OTOLARYNGOL.; U.S.A.; DA. 1972; VOL. 96; NO 4; PP. 297-304; BIBL. 22REF.Serial Issue

NONFATAL WISKOTT-ALDRICH SYNDROME IN A 15-YEAR-OLD BOY = SYNDROME DE WISKOTT-ALDRICH NON MORTEL CHEZ UN ADOLESCENT DE 15ANSJOERGENSEN HP.1972; ARCH. DERMATOL.; U.S.A.; DA. 1972; VOL. 106; NO 4; PP. 541-542; BIBL. 16REF.Serial Issue

HEREDODEGENERATIVE DISEASES OF THE CHILDREN'S NERVOUS SYSTEM = MALADIES HEREDO-DEGENERATIVES DU SYSTEME NERVEUX DE L'ENFANT1971; IN: IIND PRAGUE INST. SYMP. CHILD NEUROL., PRAGUE, 1970; PRAHA; UNIV. KARLOVA; DA. 1971; PP. 11-42; BIBL. DISSEM.Conference Proceedings