Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("MALADIE HEREDITAIRE METABOLISME")

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 447

  • Page / 18
Export

Selection :

  • and

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

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

SCREENING THE NEGRO POPULATION FOR INBORN ERRORS OF METABOLISM = RECHERCHE DANS LA POPULATION NOIRE DES ERREURS CONGENITALES DE METABOLISMECALVERT AF; SCOTT RB.1972; MED. ANN. DISTR. COLUMBIA; U.S.A.; DA. 1972; VOL. 41; NO 5; PP. 285-287; BIBL. 14 REF.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

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

MULTIPHASISCHE TESTUNG ZUR ERKENNUNG VON GENETISCHEN STOERUNGEN DES AMINOSAEURE-UND KOHLENHYDRATSTOFFWECHSELS, EINE PILOTSTUDIE = TEST MULTIPHASIQUE POUR LE DIAGNOSTIC DES TROUBLES GENETIQUES DES METABOLISMES DES ACIDES AMINES ET DES GLUCIDES. ETUDE PILOTEURNER U; AHLBEHRENDT I; FRIEDEMANN H et al.1973; DTSCHE GESUNDH.-WES.; DTSCH.; DA. 1973; VOL. 28; NO 2; PP. 49-53; ABS. RUSSE ANGL.; BIBL. 23REF.Serial Issue

GLI ERRORI CONGENITI DEL CICLO DELL'UREA = LES ERREURS CONGENITALES DU CYLE DE L'UREETANCREDI F; PIGNERO A.1972; BIOCHIM. APPL.; ITAL.; DA. 1972; VOL. 19; NO 1; PP. 1-28; ABS. ANGL.; BIBL. 1 P. 1/2Serial Issue

ROENTGEN FINDINGS IN MUCOLIPIDOSISIII. (PSEUDO-HURLER POLYDYSTROPHY = CONSTATATIONS RADIOLOGIQUES DANS LA MUCOLIPIDOSEIII. (PSEUDO-POLYDYSTROPHIE DE HURLER)MELHEM R; DORST JP; SCOTT CI JR et al.1973; RADIOLOGY,; U.S.A.; DA. 1973; VOL. 106; NO 1; PP. 153-160; BIBL. 15REF.Serial Issue

REEVALUATION OF ROLE OF RECTAL BIOPSY IN DIAGNOSIS OF PEDIATRIC NEUROLOGIC DISORDERS = REEVALUATION DU ROLE DE LA BIOPSIE RECTALE DANS LE DIAGNOSTIC DES TROUBLES NEUROLOGIQUES EN PEDIATRIEMYERS GJ; HEDLEY WHYTE ET; FAGAN ME et al.1973; NEUROLOGY; U.S.A.; DA. 1973; VOL. 23; NO 1; PP. 27-34; BIBL. 33 REF.Serial Issue

MENKES'S KINKY HAIR SYNDROME. AN INHERITED DEFECT IN COPPER ABSORPTION WITH WIDESPREAD EFFECTS = SYNDROME DES CHEVEUX CREPELES DE MENKES. UN DEFAUT HEREDITAIRE DE L'ABSORPTION DU CUIVRE A EFFETS MULTIPLESDANKS DM; CAMPBELL PE; STEVENS BJ et al.1972; PEDIATRICS; U.S.A.; DA. 1972; VOL. 50; NO 2; PP. 188-201; BIBL. 20 REF.Serial Issue

MASSACHUSETTS METABOLIC DISORDERS SCREENING PROGRAM. I. TECHNICS AND RESULTS OF URINE SCREENING = LE PROGRAMME DE DEPISTAGE DES TROUBLES METABOLIQUES DANS LE MASSACHUSETTS. I. TECHNIQUES ET RESULTATS DU DEPISTAGE URINAIRELEVY HL; MADIGAN PM; SHIH VE et al.1972; PEDIATRICS; U.S.A.; DA. 1972; VOL. 49; NO 6; PP. 825-836; BIBL. 37REF.Serial Issue

INTOLERANCE AU PHYTOL: MALADIE DE REFSUMLAUDAT P.1972; BIOCHIMIE; FR.; DA. 1972; VOL. 54; NO 5-6; PP. 735-738; ABS. ANGL.; BIBL. 6REF.Serial Issue

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

HOMOCYSTINURIE: ETUDE HISTOLOGIQUE OCULAIREDANIS P; HUBERT JM; MASSIEN V et al.1972; BULL. SOC. BELGE OPHTALMOL.; BELG.; DA. 1972; NO 162; PP. 850-857; BIBL. 14REF.Serial Issue

PHENYLKETONURIA IN CHILDREN IN SPECIAL AND REMEDIAL CLASSES. A SURVEY IN PERTH = LA PHENYLCETONURIE CHEZ LES ENFANTS DES CLASSES SPECIALES ET DE RATTRAPAGE. ETUDE REALISEE A PERTHGURRY DL; BENSON J; SIMPSON M et al.1973; MED. J. AUSTRAL.; AUSTRAL.; DA. 1973; VOL. 1; NO 13; PP. 546-647; BIBL. 10REF.Serial Issue

PKU SCREENING. IS IT WORTH IT. THE ADVISORY COMMITTEE ON INBORN ERRORS OF METABOLISM TO THE MINISTRY OF HEALTH = LE DEPISTAGE DE LA PHENYLCETONURIE EN VAUT-IL LA PEINE.1973; CANAD. MED. ASS. J.; CANADA; DA. 1973; VOL. 108; NO 3; PP. 328-329; ABS. FR.; BIBL. 2REF.Serial Issue

FRUEHERFASSUNG ANGEBORENER STOFFWECHSELANOMALIEN METHODEN UND ERGEBNISSE DES OESTERREICHISCHEN PROGRAMME.I = METHODE DE DEPISTAGE PRECOCE DES TROUBLES HEREDITAIRES DU METABOLISME ET RESULTAT DU PROGRAMME AUTRICHIENSCHMIERER G.1973; MED. LAB.,; DTSCH.; DA. 1973; VOL. 26; NO 4; PP. 83-91Serial Issue

FACTEURS DECLENCHANTS DE LA CRISE DE GOUTTEALBOUY R.1973; CAH. NUTRIT. DIET.; FR.; DA. 1973; VOL. 8; NO 1; PP. 61-65Serial Issue

GENETIQUE ET TROUBLES DU METABOLISME GLUCIDIQUELESTRADET H.1973; VIE MED.,; FR.; DA. 1973; VOL. 54; NO 1; PP. 51-58 (4P.); ABS. ANGL.; BIBL. 16REF.Serial Issue

LA MUCOVISCIDOSE. DONNEES PATHOGENIQUES ACTUELLESGILLY R.1973; SEM. HOP., ANN. PEDIATR.; FR.; DA. 1973; VOL. 49; NO 1; PP. 5-12; ABS. ANGL. ESP. ALLEM.; BIBL. 34REF.Serial Issue

CYSTINOSIS. (A CASE REPORT) = LA CYSTINOSE. (LE RAPPORT D'UN CAS)EDIBAM B.1972; INDIAN PEDIATR.; INDIA; DA. 1972; VOL. 9; NO 2; PP. 117-118; BIBL. 10 REF.Serial Issue

PATHOGENESIS OF PHENYLKETONURIA: INHIBITION OF DOPA AND CATECHOLAMINE SYNTHESIS IN PATIENTS WITH PHENYLKETONURIA = PATHOGENE DE LA PHENYLCETONURIE: INHIBITION DE LA SYNTHESE DE LA DOPA ET DES CATECHOLAMINES CHEZ LES MALADES ATTEINTS DE PHENYLCETONURIECURTIUS HC; BAERLOCHER K; VOELLMIN JA et al.1972; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1972; VOL. 42; NO 1; PP. 235-239; BIBL. 13 REF.Serial Issue

SCREENING FOR INHERITED METABOLIC DISEASE BY PLASMA CHROMATOGRAPHY (SCRIVER) IN A LARGE CITY = DEPISTAGE DE MALADIE METABOLIQUE CONGENITALE PAR CHROMATOGRAPHIE PLASMATIQUE DANS UNE GRANDE VILLERAINE DN; COOKE JR; ANDREWS WA et al.1972; BRIT. MED. J.; G.B.; DA. 1972; NO 5817; PP. 7-13; BIBL. 27REF.Serial Issue

LES ACIDES AMINES DU LIQUIDE INTESTINAL CHEZ LE SUJET HYPERPHENYLALANINEMIQUE. ETUDE COMPARATIVE AVEC UN GROUPE TEMOINFARRIAUX JP; DHONDT JL.1972; SEM. HOP., ANN. PEDIATR.; FR.; DA. 1972; VOL. 19; NO 12; PP. 867-871; ABS. ANGL. ESP. ALLEM.; BIBL. 6REF.Serial Issue

PROTIDES ET DEFICITS ENZYMATIQUESMOZZICONACCI P; SAUDUBRAY JM.1972; REV. FR. DIET.; FR.; DA. 1972; VOL. 16; NO 63; PP. 37-46Serial Issue

  • Page / 18