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

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

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

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

HEPATIC FRUCTASE-1,6-DIPHOSPHATASE DEFICIENCY. A CAUSE OF LACTIC ACIDOSIS AND HYPOGLYCEMIA IN INFANCY = DEFICIENCE DE FRUCTOSE-1,6-DIPHOSPHATASE HEPATIQUE. UNE CAUSE D'ACIDOSE LACTIQUE ET D'HYPOGLYCEMIE DANS LA PREMIERE ENFANCEPAGLIARA AS; KARL IE; KEATING JP et al.1972; J. CLIN. INVEST.; U.S.A.; DA. 1972; VOL. 51; NO 8; PP. 2115-2123; BIBL. 30 REF.Serial Issue

TANGIER DISEASE. REPORT OF A CASE AND STUDIES OF LIPID METABOLISM = MALADIE DE TANGIER. EXPOSE D'UN CAS ET ETUDES DU METABOLISME LIPIDIQUECLIFTON BLIGH P; NESTEL PJ; WHYTE HM et al.1972; NEW ENGL. J. MED.; U.S.A.; DA. 1972; VOL. 286; NO 11; PP. 567-571; BIBL. 33REF.Serial Issue

LES MALADIES LYSOSOMALES HEREDITAIRESBURE J.1973; VIE MED.; FR.; DA. 1973; VOL. 54; NO 17; PP. 2157-2164 (6P.); BIBL. 4REF.Serial Issue

LES HYPERURICEMIES FAMILIALESGAGNADOUX MF; BROYER M.1972; GAZ. MED. FR.; FR.; DA. 1972; VOL. 79; NO 35; PP. 6325-6332 (4 P.); ABS. ANGL.; BIBL. 11 REF.Serial Issue

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

A GUIDE TO SCREENING NEWBORN INFANTS FOR INBORN ERRORS OF METABOLISM = UN GUIDE POUR DEPISTER LES ERREURS CONGENITALES DU METABOLISME CHEZ LES NOUVEAU-NESBUIST NRM; JHAVERI BM.1973; J. PEDIATR.; U.S.A.; DA. 1973; VOL. 82; NO 3; PP. 511-522; BIBL. 1P.Serial Issue

MALADIES CONGENITALES, LIEES A UN TROUBLE DU METABOLISME DES POLYSACCHARIDES ET AUTRES BIOPOLYMERES A COMPOSANTES GLUCIDIQUESROZENFEL'D EL.1973; VEST. AKAD. MED. NAUK S.S.S.R.,; S.S.S.R.; DA. 1973; NO 1; PP. 74-81; BIBL. 1P.Serial Issue

CINETIQUE DU FER DANS LES HEMOCHROMATOSESNAJEAN Y; DRESCH C.1972; ANN. BIOL. CLIN.; FR.; DA. 1972; VOL. 30; NO 4; PP. 379-389; ABS. ANGL.; BIBL. 40REF.Serial Issue

LES HEMOCHROMATOSES. (A PROPOS DE 100OBSERVATIONS)DARNIS F.1972; ANN. BIOL. CLIN.; FR.; DA. 1972; VOL. 30; NO 4; PP. 349-378; ABS. ANGL.; BIBL. 2P.1/2Serial Issue

TRANSPORT OF DIBASIC AMINO ACIDS, CYSTINE, AND TRYPTOPHAN BY CULTURED HUMAN FIBROBLASTS. ABSENCE OF A DEFECT IN CYSTINURIA AND HARTNUP DISEASE = TRANSPORT DES ACIDES AMINES DIBASIQUES, DE LA CYSTINE ET DU TRYPTOPHANE PAR DES FIBROBLASTES HUMAINS EN CULTURE. ABSENCE D'ANOMALIE DANS LA CYSTINURIE ET LA MALADIE DE HARTNUPGROTH U; ROSENBERG LE.1972; J. CLIN. INVEST.; U.S.A.; DA. 1972; VOL. 51; NO 8; PP. 2130-2142; BIBL. 36 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

ANEMIA HEMOLITICAS HEREDITARIAS POR ANORMALIDAD DE LA MEMBRANA. CONCEPTOS ACTUALES Y COMENTARIOS A TRES CASOS DE ESFEROCITOSIS HERETIDARIA = ANEMIES HEMOLYTIQUES HEREDITAIRES PAR ANOMALIE DE LA MEMBRANE. CONCEPTIONS ACTUELLES ET COMMENTAIRES SUR 3CAS DE SPHEROCYTOSE HEREDITAIREVELASCO COLLAZO JA; VALVERDE MORENO F.1974; REV. ESP. PEDIATR.; ESP.; DA. 1974; VOL. 30; NO 179; PP. 501-528; ABS. ANGL. FR. ALLEM.; BIBL. 25REF.Article

EVIDENCE FOR X-LINKED DOMINANT INHERITANCE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY = MISE EN EVIDENCE D'UNE TRANSMISSION HEREDITAIRE DOMINANTE LIEE AU CHROMOSOMEX DU DEFICIT EN ORNITHINE TRANSCARBAMYLASESHORT EM; CONN HO; SNODGRASS PJ et al.1973; NEW ENGL. J. MED.; U.S.A.; DA. 1973; VOL. 288; NO 1; PP. 7-12; BIBL. 22REF.Serial Issue

HYPERAMMONIEMIE HEREDITAIRE PAR ANOMALIE QUALITATIVE DE L'ORNITHINE-CARBAMYL-TRANSFERASE HEPATIQUE ET INTESTINALECATHELINEAU L; NAVARRO J; AYMARD P et al.1972; ARCH. FR. PEDIATR.; FR.; DA. 1972; VOL. 29; NO 7; PP. 713-736; ABS. ANGL.; BIBL. 1P.1/2Serial Issue

ENZYMATIC TRANSPLANTATION1973; SOUTH. MED. J.; U.S.A.; DA. 1973; VOL. 66; NO 3; PP. 289-291; BIBL. 15REF.Serial 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

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

ABSENCE OF HEXOSAMINIDASE A AND B IN A NORMAL ADULT = ABSENCE D'HEXOSAMINIDASE A ET B CHEZ UN ADULTE NORMALDREYFUS JC; POENARU L; SVENNERHOLM L et al.1975; NEW ENGL. J. MED.; U.S.A.; DA. 1975; VOL. 292; NO 2; PP. 61-63; BIBL. 21REF.Article

DETECTION OF HEPATIC PHENYLALANINE4-HYDROXYLASE IN CLASSICAL PHENYLKETONURIA = DETECTION DE PHENYLALANINE 4-HYDROXYLASE HEPATIQUE DANS LA PHENYLCETONURIE CLASSIQUEFRIEDMAN PA; FISHER DB; KANG ES et al.1973; PROC. NATION. ACAD. SCI. U.S.A.; U.S.A.; DA. 1973; VOL. 70; NO 2; PP. 552-556; BIBL. 25REF.Serial Issue

GENETIC DEFECTS OF LYSOSOMAL ENZYMES = LES ANOMALIES GENETIQUES DES ENZYMES LYSOSOMIQUESO'BRIEN JS.1973; EXCERPTA MED., INTERNATION. CONGR. SER.; PAYS-BAS; DA. 1973; NO 250; PP. 286-299; BIBL. 19REF.; (C.R. IVE CONGR. INT. GENET. HUM.; PARIS; 1971)Conference Paper

LA DETECTION DE L'HETEROZYGOTISME POUR LA SULFATIDOSE (FORME INFANTILE). REFLEXIONS A PROPOS D'UNE ETUDE PORTANT SUR TROIS FAMILLESGUIBAUD P; GARCIA I; GUYONNET C et al.1973; LYON MED.; FR.; DA. 1973; VOL. 229; NO 12; PP. 1215-1224; ABS. ANGL.; BIBL. 30REF.Serial Issue