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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

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

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UNE NOUVELLE CAUSE D'HYPERMETHIONINEMIE DE L'ENFANT: LE DEFICIT EN S-ADENOSYL-METHIONINE-SYNTHETASE.GOUT JP; SERRE JC; DIETERLEN M et al.1977; ARCH. FR. PEDIATR.; FR.; DA. 1977; VOL. 34; NO 5; PP. 416-423; ABS. ANGL.; BIBL. 20 REF.Article

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PRELIMINARY REPORT ON THE EFFECTS OF DIET DISCONTINUATION IN PKUKOCH R; AZEN CG; FRIEDMAN EG et al.1982; JOURNAL OF PEDIATRICS; ISSN 0022-3476; USA; DA. 1982; VOL. 100; NO 6; PP. 870-875; BIBL. 28 REF.Article

ACTUALITES SUR LES AMINOACIDOPATHIESFARRIAUX JP; DHONDT JL; CARTIGNY B et al.1978; DIABETE ET METABOL.; FRA; DA. 1978; VOL. 4; NO 3; PP. 201-212; ABS. ENG; BIBL. 105 REF.Article

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VIELFACHREFLEXIONS-INFRAROTSPEKTROSKOPIE AN HAAREN VON MAEUSEN MIT EINER EXPERIMENTALLEN AMINOSAEURESTOFF-WECHSELERKRANKUNG (L-ACETIDIN-2-CARBONSAEURE-EINBAU ANSTELLE VON PROLIN): EIN MODELL FUER DIE ANWENDUNG DER INFRAROT-SPEKTROSKOPIE ALS SCREENINGS-METHODE FUER STOFFWECHSELERKRANKUNGEN = SPECTROSCOPIE INFRAROUGE A REFLECTIONS MULTIPLES DES POILS DE LA SOURIS AVEC MALADIE EXPERIMENTALE DU METABOLISME DES AMINOACIDES (INCORPORATION DE L-ACETIDINE-2 ACIDE CARBOXYLIQUE A LA PLACE DE LA PROTEINE). UN MODELE POUR L'UTILISATION DE LA SPECTROSCOPIE INFRAROUGE COMME METHODE DE DEPISTAGE DES MALADIES METABOLIQUESLUBEC G; NAUER G; POLLAK A et al.1983; H+G. ZEITSCHRIFT FUER HAUTKRANKHEITEN; ISSN 0301-0481; DEU; DA. 1983; VOL. 58; NO 9; PP. 637-645; 7 P.; ABS. ENG; BIBL. 4 REF.Article

DECREASED ESSENTIAL AMINO ACID REQUIREMENTS WITHOUT CATABOLISM IN PHENYLKETONURIA AND MAPLE SYRUP URINE DISEASERUCH T; KERR D.1982; AM. J. CLIN. NUTR.; ISSN 0002-9165; USA; DA. 1982; VOL. 35; NO 2; PP. 217-228; BIBL. 29 REF.Article

GC-MS IDENTIFICATION OF URINARY SUCCINYLACETONE IN TWO CASES OF HEREDITARY TYROSINAEMIADIVRY P; ROLLAND MO; TESSIER J et al.1982; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; SUPPL. 1; PP. 41-42; BIBL. 8 REF.Article

MAPLE SYRUP URINE DISEASE WITH INCREASED INTRACRANIAL PRESSUREMIKATI MA; DUDIN GE; DER KALOUSTIAN VM et al.1982; AMERICAN JOURNAL OF DISEASES OF CHILDREN; ISSN 0002-922X; USA; DA. 1982; VOL. 136; NO 7; PP. 642-643; BIBL. 9 REF.Article

NON-KETOTIC HYPERGLYCINAEMIA - A REVIEW OF 70 PATIENTSCARSON NAJ.1982; JOURNAL OF INHERITED METABOLIC DISEASE; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; SUPPL. 2; PP. 126-128; BIBL. 2 REF.Article

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ZWOELF JAHRE OESTERREICHISCHES PROGRAMM ZUR FRUEHERFASSUNG ANGEBORENER STOFFWECHSELANOMALIEN. ERGEBNISSE UNTER BESONDERER BERUECKSICHTIGUNG VON PHENYLKETONURIE, HYPERPHENYLALANINAEMIE UND HISTIDINAEMIE = LE PROGRAMME AUTRICHIEN DE 12 ANNEES POUR LE DEPISTAGE PRECOCE DES ANOMALIES METABOLIQUES CONGENITALES. LES RESULTATS EN TENANT COMPTE EN PARTICULIER DE LA PHENYLCETONURIE, DE L'HYPERPHENYLALANINEMIE ET DE L'HISTIDINEMIETHALHAMMER O; SCHEIBENREITER S; KNOLL E et al.1980; KLIN. PAEDIATR.; ISSN 0300-8630; DEU; DA. 1980; VOL. 192; NO 6; PP. 589-598; ABS. ENG; BIBL. 25 REF.Article

METHYLMALONIC ACIDEMIACOHEN JJ.1979; KIDNEY INTERNATION.; DEU; DA. 1979; VOL. 15; NO 3; PP. 311-320; BIBL. 24 REF.Article

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THE NUTRITIONAL THERAPY OF HISTIDINEMIASNYDERMAN SE; NORTON PM; MANKA M et al.1979; J. PEDIATR.; USA; DA. 1979; VOL. 95; NO 5 PART. 1; PP. 712-715; BIBL. 24 REF.Article

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