SCREENING AND TREATMENT FOR HEREDITARY (METABOLIC) DISEASE = DEPISTAGE ET TRAITEMENT DES MALADIES (METABOLIQUES) HEREDITAIRESSCRIVER CR.1973; EXCERPTA MED., INTERNATION. CONGR. SER.; PAYS-BAS; DA. 1973; NO 250; PP. 10-24; BIBL. 1P.1/2; (C.R. IVECONGR. INT. GENET. HUM.; PARIS; 1971Conference Paper

THE GENETICS OF HEREDITARY DISORDERS OF BLOOD COAGULATION = GENETIQUE DES DESORDRES HEREDITAIRES DE LA COAGULATION DU SANGRATNOFF OD; BENNETT B.1973; SCIENCE; U.S.A.; DA. 1973; VOL. 179; NO 4080; PP. 1291-1298; BIBL. 53REF.Serial Issue

GENETIQUE ET TROUBLES DU METABOLISME GLUCIDIQUELESTRADET H.sdVIE MED.,; FR.; DA. 197; VOL. 54; NO 1; PP. 51-58 (4P.); ABS. ANGL.; BIBL. 16REF.Serial Issue

THE SKIN IN GENETICALLY-CONTROLLED METABOLIC DISORDERS = LA PEAU DANS LES ANOMALIES METABOLIQUES D'ORIGINE GENETIQUENEWBOLD PCH.1973; J. MED. GENET.; G.B.; DA. 1973; VOL. 10; NO 2; PP. 101-111; BIBL. 2P.1/2Serial Issue

LES ANOMALIES METABOLIQUES CONGENITALES1972; PHARM. HOSP. FR.; FR.; DA. 1972; NO 21; PP. 99-111(9 P.)Serial Issue

PRAENATALE DIAGNOSTIK ANGEBORENER STOFFWECHSELSTOERUNGEN = DIAGNOSTIC PRENATAL DES TROUBLES CONGENITAUX DU METABOLISMEWIESMAN U.1972; BULL. ACAD. SUISSE SCI. MED.; SUISSE; DA. 1972; VOL. 28; NO 5-6; PP. 286-293; ABS. FR. ITAL. ANGL.; BIBL. 1P.1/2Serial Issue

LES ERREURS INNEES DU METABOLISME DES AMINOACIDESTOMASZEWSKI L.1973; POST. BIOCHEM.; POLSKA; DA. 1973; VOL. 19; NO 1; PP. 91-122; ABS. ANGL.; BIBL. 4P.Serial Issue

DOWN'S SYNDROME. CENTRAL MONOAMINE TURNOVER IN PATIENTS WITH DIMINISHED PLATELET SEROTONIN = MONGOLISME. TURN-OVER DES MONOAMINES CENTRALES CHEZ DES MALADES PRESENTANT UNE DIMINUTION DU TAUX PLAQUETTAIRE DE SEROTONINELOTT IT; MURPHY DL; CHASE TN et al.1972; NEUROLOGY,; U.S.A.; DA. 1972; VOL. 22; NO 9; PP. 967-972; BIBL. 1P.Serial Issue

GENETIC DEFECTS OF GLYCOGEN METABOLISM AND ITS CONTROL1973; ANN. NEW YORK ACAD. SCI.; U.S.A.; DA. 1973; VOL. 210; PP. 290-302; BIBL. 1P.1/2Serial Issue

INBORN ERRORS OF METABOLISM = ERREURS CONGENITALES DE METABOLISMEPRADER A.1973; BIBL. NUTRIT. ET DIETA; SUISSE; DA. 1973; VOL. 18; NO 18; PP. 179-180Serial Issue

PARTICULARITES DU METABOLISME DES CATECHOLAMINES DANS LA PHENYLCETONURIEBULAKHOVA LO; USHERENKO LS.1973; FIZIOL. ZH., U.R.S.R.; S.S.S.R.; DA. 1973; VOL. 19; NO 1; PP. 86-91; ABS. ANGL.; BIBL. 26REF.Serial Issue

HUMANGENETISCHE ASPEKTE DER PORPHYRINSTOFFWECHSELSTOERUNGEN = ASPECTS HUMANOGENETIQUES DES TROUBLES DU METABOLISME DES PORPHYRINESWICHMANN T; SCHMIDT R.1972; BIOL. RDSCH.; DTSCH.; DA. 1972; VOL. 10; NO 6; PP. 399-403; BIBL. 16REF.Serial Issue

MARIAGES CONSANGUINS DANS DES FAMILLES ATTEINTES DE PHENYLCETONURIEBLYUMINA MG.1973; GENETIKA; S.S.S.R.; DA. 1973; VOL. 9; NO 1; PP. 152-155; ABS. ANGL.; BIBL. 13REF.Serial Issue

LYSOSOMAL ENZYME VARIATIONS IN CULTURED NORMAL SKIN FIBROBLASTSMILUNSKY A; SPIELVOGEL C; KANFER JN et al.1972; LIFE SCI., 2; G.B.; DA. 1972; VOL. 11; NO 22; PP. 1101-1107; BIBL. 11 REF.Serial Issue

NORMAL IQ DISTRIBUTIONS OF EARLY-TREATED PHENYLKETONURIC CHILDREN AND THEIR UNAFFECTED SIBLINGS: FAILURE TO REPLICATE A TRIMODAL RESPONSE OR NEGATIVE SKEW = DISTRIBUTIONS NORMALES DES QI DES ENFANTS PHENYLCETONURIQUES TRAITES PRECOCEMENT ET DE LEURS FRERES ET SOEURS NON ATTEINTS: ECHEC DANS LA REPRODUCTION D'UNE REPONSE TRIMODALE OU D'UN BIAIS NEGATIFO'GRADY DJ; MULHERN T; BERRY HK et al.1972; NATURE; G.B.; DA. 1972; VOL. 238; NO 5360; PP. 169-170; BIBL. 7 REF.Serial Issue

SIALIC ACID IN ERYTHROCYTES OF PATIENTS WITH AMAUROTIC IDIOCY AND HUNTINGTON'S CHOREA = L'ACIDE SIALIQUE DANS LES ERYTHROCYTES DES MALADES ATTEINTS D'IDIOTIE AMAUROTIQUE ET DE CHOREE DE HUNTINGTONPRONK JC; HOOYEN BOSMA E; EDGAR GWF et al.1972; HUMANGENETIK; DTSCH.; DA. 1972; VOL. 17; NO 1; PP. 65-68; BIBL. 12 REF.Serial Issue

SOME OBSERVATIONS ON THE BLOOD LEVELS OF PHENYLALANINE IN DILUTE MICE AND A COMPARISON BETWEEN HUMAN PHENYLKETONURIA AND THE DISEASE OF MICE HOMOZYGOUS FOR THE DILUTE LETHAL GENE = QUELQUES OBSERVATIONS SUR LES TAUX SANGUINS DE PHENYLALANINE CHEZ LES SOURIS DILUTE ET COMPARAISON ENTRE LA PHENYLCETONURIE HUMAINE ET LA MALADIE DES SOURIS HOMOZYGOTES POUR LE GENE LETAL DILUTESELLER MJ.1972; CLIN. GENET.; DANM.; DA. 1972; VOL. 3; NO 6; PP. 495-500; BIBL. 24REF.Serial Issue

GENETIQUE CLINIQUE ET GENETIQUE FONDAMENTALEFERRIER PE.1972; BULL. ACAD. SUISSE SCI. MED.; SUISSE; DA. 1972; VOL. 28; NO 5-6; PP. 314-319; ABS. ALLEM. ITAL. ANGL.; BIBL. 10REF.Serial Issue

A STUDY OF GALACTOKINASE AND GLUCOSE 4-EPIMERASE FROM NORMAL AND GALACTOSEMIC SKIN FIBROBLASTSCHACKO CM; MCCRONE L; NADLER HL et al.1972; BIOCHIM. BIOPHYS. ACTA; PAYS-BAS; DA. 1972; VOL. 284; NO 2; PP. 552-555; BIBL. 16REF.Serial Issue

ZUR BEZIEHUNG ZWISCHEN HAUTLEISTENVERLAUF UND MORBUS WILSON = SUR LES RAPPORTS ENTRE LES DERMATOGLYPHES ET LA MALADIE DE WILSONVORMITTAG W; WENINGER M; HAYEK H et al.1973; HUMANGENETIK; DTSCH.; DA. 1973; VOL. 18; NO 4; PP. 337-340; ABS. ANGL.; BIBL. 11REF.Serial Issue

DEFECT OF INTESTINAL MUCOSAL IRON UPTAKE IN MICE WITH HEREDITARY MICROCYTIC ANEMIA = DEFAUT D'ABSORPTION DE FER PAR LA MUQUEUSE INTESTINALE CHEZ LES SOURIS AVEC UNE ANEMIE MICROCYTAIRE HEREDITAIREEDWARDS JA; HOKE JE.1972; PROC. SOC. EXPER. BIOL. MED.; U.S.A.; DA. 1972; VOL. 141; NO 1; PP. 81-84; BIBL. 6REF.Serial Issue

DEFICIENCY OF D-BETA -AMINOISOBUTYRATE: PYRUVATE AMINOTRANSFERASE IN THE LIVER OF GENETIC HIGH EXCRETORS OF D-BETA -AMINOISOBUTYRATETANIGUCHI K; TSUJIO T; KAKIMOTO Y et al.1972; BIOCHIM. BIOPHYS. ACTA; PAYS-BAS; DA. 1972; VOL. 279; NO 3; PP. 475-480; BIBL. 7 REF.Serial Issue

PYROLYSIS-GLC STUDIES ON AMNIOTIC FLUID: A PROSPECTIVE METHOD FOR CONFIRMING IN BORN ERRORS IN FETUSESREINER E; HICKS JJ.1972; CHROMATOGRAPHIA; ALLEM.; DA. 1972; NO 9; PP. 529-531; ABS. ALLEM. FR.; BIBL. 4REF.Serial Issue

RAPID TEST FOR THE DETECTION OF TAY-SACHS DISEASE HETEROZYGOTES AND HOMOZYGOTES BY SERUM HEXOSAMINIDASE ASSAY = EPREUVE RAPIDE POUR LA DETECTION DES HETEROZYGOTES ET DES HOMOZYGOTES DE LA MALADIE DE TAY-SACHS PAR DOSAGE DE L'HEXOSAMINIDASE DU SERUMSAIFER A; ROSENTHAL AL.sdCLIN. CHIM. ACTA; PAYS-BAS; DA. 197; VOL. 43; NO 3; PP. 417-421; BIBL. 11REF.Serial Issue

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