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HEREDITARY TYROSINAEMIA. CLINICAL, ENZYMATIC, AND PATHOLOGICAL STUDY OF AN INFANT WITH THE ACUTE FORM OF THE DISEASECARSON NAJ; BIGGART JD; BITTLES AH et al.1976; ARCH. DIS. CHILDH.; G.B.; DA. 1976; VOL. 51; NO 2; PP. 106-113; BIBL. 30 REF.Article

IMPROVED HIGH-RESOLUTION HIGH-VOLTAGE PAPER ELECTROPHORESIS SYSTEM FOR USE IN SCREENING FOR AMINOACIDOPATHIES. = SYSTEME AMELIORE D'ELECTROPHORESE SUR PAPIER EN HAUTE TENSION DE RESOLUTION ELEVEE A L'USAGE DU DEPISTAGE DES AMINOACIDOPATHIESSPIEKERMAN AM; HETHERLY ME; HALL FF et al.1975; CLIN. CHEM.; U.S.A.; DA. 1975; VOL. 21; NO 13; PP. 1980-1982; BIBL. 12 REF.Article

NON-KETOTIC HYPERGLYCINEMIA: A CASE REPORTMEHARBAN SINGH; GHAI OP.1975; INDIAN PEDIATR.; INDIA; DA. 1975; VOL. 12; NO 2; PP. 197-199; BIBL. 7REF.Article

SURVIVAL OF INFANT WITH ARGININOSUCCINIC ACIDURIA TO 3 MONTHS OF AGE. = SURVIE JUSQU'A L'AGE DE 3 MOIS D'UN NOURRISSON ATTEINT D'ACIDURIE ARGININOSUCCINIQUEFARRIAUX JP; PIERAERT C; FONTAINE G et al.1975; J. PEDIATR.; U.S.A.; DA. 1975; VOL. 86; NO 4; PP. 639Article

DIAGNOSIS AND MANAGEMENT OF INHERITED AMINOACIDOPATHIES IN THE NEWBORN AND UNBORN = DIAGNOSTIC ET TRAITEMENT DES AMINOACIDOPATHIES HEREDITAIRES CHEZ LE NOUVEAU-NE ET LE FOETUSROSENBERG LE.1974; CLIN. ENDOCRINOL. METABOL.; G.B.; DA. 1974; VOL. 3; NO 1; PP. 145-152; BIBL. 1/2P.Article

PHENYLKETONURIA AND ITS VARIANTS.KAUFMAN S; MILSTIEN S.1977; ANN. CLIN. LAB. SCI.; U.S.A.; DA. 1977; VOL. 7; NO 2; PP. 178-185; BIBL. 31 REF.Article

L'OMOCISTINURIA. SINTESI CLINICA E DESCRIZIONE DI UN CASO = L'HOMOCYSTINURIE. REVUE CLINIQUE ET DESCRIPTION D'UN CASZAMMARCHI E; BORGHERESI S.1976; MINERVA PEDIATR.; ITAL.; DA. 1976; VOL. 28; NO 12; PP. 730-742; ABS. ANGL.; BIBL. 2 P.Article

LYSINURIC PROTEIN INTOLERANCE.SIMELL O; PERHEENTUPA J; RAPOLA J et al.1975; AMER. J. MED.; U.S.A.; DA. 1975; VOL. 59; NO 2; PP. 229-240; BIBL. 36 REF.Article

TROUBLES DU METABOLISME DE L'ALANINEVULOVIC D; MARJANOVIC B; STOJANOV L et al.1975; JUGOSL. PEDIJATR.; JUGOSL.; DA. 1975; VOL. 18; NO 1; PP. 7-18; ABS. ANGL.; BIBL. 3 P.Article

NEONATAL SCREENING FOR INBORN ERRORS OF AMINO ACID METABOLISM = RECHERCHE NEONATALE DES ERREURS HEREDITAIRES DU METABOLISME DES ACIDES AMINESLEVY HL.1974; CLIN. ENDOCRINOL. METABOL.; G.B.; DA. 1974; VOL. 3; NO 1; PP. 153-166; BIBL. 1P.Article

TENTATIVES THERAPEUTIQUES DANS LES AMINOACIDOPATHIESSAUDUBRAY JM; BOISSE J.1974; ANN. BIOL. CLIN.; FR.; DA. 1974; VOL. 32; NO 5; PP. 461-471; ABS. ANGL.; BIBL. 1 P.Article

NEWBORN PHENYLALANINE/TYROSINE METABOLISM: IMPLICATIONS FOR SCREENING FOR PHENYLKETONURIASCHNEIDER AJ.1983; AMERICAN JOURNAL OF DISEASES OF CHILDREN; ISSN 0002-922X; USA; DA. 1983; VOL. 137; NO 5; PP. 427-432; BIBL. 16 REF.Article

VITAMIN-B12-ABHAENGIGE METHYLMALONAZIDAEMIE BEI ZWILLINGEN = LA METHYLMALONACIDEMIE DEPENDANT DE LA VITAMINE B12 CHEZ DES JUMEAUXKARSTEN J; HANSEN HG; HEUER R et al.1983; MONATSSCHRIFT FUER KINDERHEILKUNDE; ISSN 0026-9298; DEU; DA. 1983; VOL. 131; NO 5; PP. 289-292; ABS. ENG; BIBL. 23 REF.Article

COMPILATION OF GAS CHROMATOGRAPHIC RETENTION INDICES OF 163 METABOLICALLY IMPORTANT ORGANIC ACIDS, AND THEIR USE IN DETECTION OF PATIENTS WITH ORGANIC ACIDURIASTANAKA K; HINE DG.1982; J. CHROMATOGR.; ISSN 0021-9673; NLD; DA. 1982; VOL. 239; PP. 301-322; BIBL. 68 REF.Conference Paper

CYSTINOSIS IN A BLACK CHILDJONAS AJ; SHCNEIDER JA.1982; JOURNAL OF PEDIATRICS; ISSN 0022-3476; USA; DA. 1982; VOL. 100; NO 6; PP. 934-935; BIBL. 5 REF.Article

GLUTARIC ACIDEMIA TYPE II: CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC CONSIDERATIONSGOODMAN SI; STENE DO; MCCABE ERB et al.1982; JOURNAL OF PEDIATRICS; ISSN 0022-3476; USA; DA. 1982; VOL. 100; NO 6; PP. 946-950; BIBL. 16 REF.Article

VALINE-SENSITIVE NONKETOTIC HYPERGLYCINEMIA. CASE REPORT = HYPERGLYCINEMIE NON CETOSIQUE SENSIBLE A LA VALINE. OBSERVATION D'UN CASKRIEGER I; HART ZH.1974; J. PEDIATR.; U.S.A.; DA. 1974; VOL. 85; NO 1; PP. 43-48; BIBL. 22REF.Article

ACCUMULATION OF CYSTINE FROM GLUTATHIONE-CYSTEINE MIXED DISULFIDE IN CYSTINOTIC FIBROBLASTS; BLOCKADE BY AN INHIBITOR OF GAMMA -GLUTAMYL TRANSPEPTIDASEBUTLER J; SPIELBERG SP.1982; LIFE SCIENCES(1973); ISSN 0024-3205; GBR; DA. 1982; VOL. 31; NO 23; PP. 2563-2570; BIBL. 19 REF.Article

LYSINE MALABSORPTION SYNDROME: A NEW TYPE OF TRANSPORT DEFECTOMURA K; YAMANAKA N; HIGAMI S et al.1976; PEDIATRICS; U.S.A.; DA. 1976; VOL. 57; NO 1; PP. 102-105; BIBL. 14 REF.Article

PHENYLCETONURIECABALSKA B; BORZYMOWSKA J; GOLABEK B et al.1975; PEDIATR. POLSKA; POLSKA; DA. 1975; VOL. 50; NO 8; PP. 953-962; ABS. RUSSE ANGL.; BIBL. 13 REF.Article

HYDROXYPROLINEMIA: A CASE REPORTSRIDHARA RAMA RAO BS; SUBHASH MN; NARAYANAN HS et al.1974; INDIAN PEDIATR.; INDIA; DA. 1974; VOL. 11; NO 12; PP. 829-830; BIBL. 7REF.Article

HEREDITARY TYROSINEMIA AND THE HEME BIOSYNTHETIC PATHWAY: PROFOUND INHIBITION OF DELTA -AMINOLEVULINIC ACID DEHYDRATASE ACTIVITY BY SUCRINYLACETONESASSA S; KAPPAS A.1983; JOURNAL OF CLINICAL INVESTIGATION; ISSN 0021-9738; USA; DA. 1983; VOL. 71; NO 3; PP. 625-634; BIBL. 41 REF.Article

THE OCCURRENCE OF SUBSTITUTED 3-METHYL-3-HYDROXY-GLUTARIC ACIDS IN URINE IN PROPIONIC ACIDAEMIA AND IN BETA -KETOTHIOLASE DEFICIENCYPOLLITT RJ.1983; BIOMEDICAL MASS SPECTROMETRY; ISSN 0306-042X; GBR; DA. 1983; VOL. 10; NO 4; PP. 253-257; BIBL. 8 REF.Article

MALADIE DE HARTNUP. A PROPOS DES DEUX PREMIERS CAS CHEZ LE NOIR AFRICAINSTROBEL M; FALL M; KUAKUVI N et al.1978; BULL. SOC. MED. AFR. NOIRE LANGUE FR.; SEN; DA. 1978; VOL. 23; NO 2; PP. 118-123; ABS. ENG; BIBL. 10 REF.Article

A PROPOS DU DEPISTAGE NEONATAL DES HYPERPHENYLALANINEMIES ET DES HYPERTYROSINEMIES.DHONDT JL; FARRIAUX JP.1977; ARCH. FR. PEDIATR.; FR.; DA. 1977; VOL. 34; NO 5; PP. 474-475; BIBL. 8 REF.Article

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