METABOLISM OF GLYCINE IN THE NORMAL INDIVIDUAL AND IN PATIENTS WITH NON-KETOTIC HYPERGLYCINAEMIANYHAN WL.1982; JOURNAL OF INHERITED METABOLIC DISEASE; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; SUPPL. 2; PP. 105-110; BIBL. 2 P.Article

BEHAVIOR IN THE LESCH-NYHAN SYNDROME.NYHAN WL.1977; ANNU. PROGR. CHILD PSYCHIATRY CHILD DEVELOP.; U.S.A.; DA. 1977; PP. 175-194; BIBL. 1 P. 1/2Article

ELECTROPHORETIC PROPERTIES OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE IN ERYTHROCYTES OF SUBJECTS WITH LESCH-NYHAN SYNDROMEBAKAY B; NYHAN WL.1972; BIOCHEM. GENET.; U.S.A.; DA. 1972; VOL. 6; NO 2-3; PP. 139-146; BIBL. 1P.Serial Issue

THE CLOVERLEAF SKULLYUJNOVSKY O; NYHAN WL.1978; CLIN. GENET.; DNK; DA. 1978; VOL. 14; NO 3; PP. 178-180; BIBL. 7 REF.Article

HETEROGENEITY OF HYPOXANTINE GUANINE PHOSPHORIBOSYL TRANSFERASE FROM HUMAN ERYTHROCYTESBAKAY B; NYHAN WL.1975; ARCH. BIOCHEM. BIOPHYS.; U.S.A.; DA. 1975; VOL. 168; NO 1; PP. 26-34; BIBL. 34REFArticle

ACTIVATION OF VARIANTS OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE BY THE NORMAL ENZYMEBAKAY B; NYHAN WL.1972; PROC. NATION. ACAD. SCI. U.S.A.; U.S.A.; DA. 1972; VOL. 69; NO 9; PP. 2523-2527; BIBL. 19REF.Serial Issue

CONGENITAL CUTIS LAXA AND OSTEOPOROSISSAKATI NO; NYHAN WL.1983; AMERICAN JOURNAL OF DISEASES OF CHILDREN; ISSN 0002-922X; USA; DA. 1983; VOL. 137; NO 5; PP. 452-454; BIBL. 14 REF.Article

SHOCK FOLLOWING INTRAVENOUS PYELOGRAPHY IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA = CHOC APRES PYELOGRAPHIE INTRAVEINEUSE CHEZ DES MALADES ATTEINTS D'HYPERPLASIE CONGENITALE DES SURRENALESSILVERMAN SH; NYHAN WL.1976; J. PEDIATR.; U.S.A.; DA. 1976; VOL. 88; NO 2; PP. 269-270; BIBL. 2 REF.Article

PROXIMAL 4P-DELETION: PHENOTYPE DIFFERS FROM CLASSICAL 4P-SYNDROME.FRANCKE U; ARIAS DE; NYHAN WL et al.1977; J. PEDIATR.; U.S.A.; DA. 1977; VOL. 90; NO 2; PP. 250-252; BIBL. 6 REF.Article

JOHANSON-BLIZZARD SYNDROME IN A LARGE INBRED KINDRED WITH THREE INVOLVED MEMBERSMARDINI MK; GHANDOUR M; SAKATI NA et al.1978; CLIN. GENET.; DNK; DA. 1978; VOL. 14; NO 5; PP. 247-250; BIBL. 11 REF.Article

A SYNDROME OF METHYLMALONIC ACIDURIA, HOMOCYSTINURIA, MEGALOBLASTIC ANEMIA AND NEUROLOGIC ABNORMALITIES IN A VITAMIN B₁₂-DEFICIENT BREAST-FED INFANT OF A STRICT VEGETARIANHIGGINBOTTOM MC; SWEETMAN L; NYHAN WL et al.1978; NEW ENGL. J. MED.; USA; DA. 1978; VOL. 299; NO 7; PP. 317-323; BIBL. 36 REF.Article

HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE VARIANTS: CORRELATION OF CLINICAL PHENOTYPE WITH ENZYME ACTIVITYPAGE T; NISSINEN E; NYHAN WL et al.1981; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1981; VOL. 4; NO 4; PP. 203-206; BIBL. 17 REF.Article

SCIMITAR SYNDROMEMARDINI MK; SAKATI NA; LEWALL DB et al.1982; CLIN. PEDIATR.; ISSN 0009-9228; USA; DA. 1982; VOL. 21; NO 6; PP. 350-354; BIBL. 8 REF.Article

DEFECTIVE GLYCINE CLEAVAGE SYSTEM IN NONKETOTIC HYPERGLYCINEMIA. OCCURRENCE OF A LESS ACTIVE GLYCINE DECARBOXYLASE AND AN ABNORMAL AMINOMETHYL CARRIER PROTEINHIRAGA K; KOCHI H; HAYASAKA K et al.1981; J. CLIN. INVEST.; ISSN 0021-9738; USA; DA. 1981; VOL. 68; NO 2; PP. 525-534; BIBL. 36 REF.Article

PITFALLS IN THE PRENATAL DIAGNOSIS OF PROPIONIC ACIDEMIABUCHANAN PD; KAHLER SG; SWEETMAN L et al.1980; CLIN. GENET.; ISSN 0009-9163; DNK; DA. 1980; VOL. 18; NO 3; PP. 177-183; BIBL. 16 REF.Article

DIFFERENTIAL DIAGNOSIS OF CONGENITAL HEART DISEASE IN THE NEWBORN.KIRKPATRICK SE; CORRIN A; HIGGINS C et al.1978; WEST. J. MED.; U.S.A.; DA. 1978; VOL. 128; NO 2; PP. 127-132; BIBL. 7 REF.Article

STAPHYLOCCOCCAL PNEUMONIACANTY TG; GOSCIENSKI P; EDWARDS D et al.1978; WEST. J. MED.; USA; DA. 1978; VOL. 129; NO 3; PP. 201-209; BIBL. 6 REF.Article

HYPERGLYCINEMIA AND PROPIONYL COA CARBOXYLASE DEFICIENCY AND EPISODIC SEVERE ILLNESS WITHOUT CONSISTENT KETOSIS. = HYPERGLYCINEMIE, DEFICIT EN PROPIONYL COA CARBOXYLASE ET MALADIE EPISODIQUE SEVERE SANS CETOSE CONSTANTEWADLINGTON WB; KILROY A; ANDO T et al.1975; J. PEDIATR.; U.S.A.; DA. 1975; VOL. 86; NO 5; PP. 707-712; BIBL. 26 REF.Article

OLIVOPONTOCEREBELLAR DEGENERATION. CLINICAL AND ULTRASTRUCTURAL ABNORMALITIES = DEGENERESCENCE OLIVO-PONTO-CEREBELLEUSE. ANOMALIES CLINIQUES ET ULTRASTRUCTURALESLANDIS DMD; ROSENBERG RN; LANDIS SC et al.1974; ARCH. NEUROL.; U.S.A.; DA. 1974; VOL. 31; NO 5; PP. 295-307; BIBL. 25REF.Article

3-HYDROXYPROPIONATE. SIGNIFICANCE OF BETA -OXIDATION OF PROPIONATE IN PATIENTS WITH PROPIONIC ACIDEMI AND METHYL MALONIC ACIDEMIAANDO T; RASMUSSEN K; NYHAN WL et al.1972; PROC. NATION. ACAD. SCI. U.S.A.; U.S.A.; DA. 1972; VOL. 69; NO 10; PP. 2807-2811; BIBL. 29 REF.Serial Issue

RENAL PATHOGENESIS OF FAMILIAL HYPERURICEMIA: STUDIES IN TWO KINDREDSSTAPLETON FB; NYHAN WL; BORDEN M et al.1981; PEDIATR. RES.; ISSN 0031-3998; USA; DA. 1981; VOL. 15; NO 1; PP. 1447-1453; BIBL. 40 REF.Article

GLUTARIC ACIDURIA TYPE IISWEETMAN L; NYHAN WL; TRAUNER DA et al.1980; J. PEDIATR.; USA; DA. 1980; VOL. 96; NO 6; PP. 1020-1026; BIBL. 15 REF.Article

REEXPRESSION OF THE RAT HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE IN RAT-HUMAN HYBRIDSCROCE CM; BAKAY B; NYHAN WL et al.1973; PROC. NATION. ACAD. SCI. U.S.A.; U.S.A.; DA. 1973; VOL. 70; NO 9; PP. 2590-2594; BIBL. 21REF.Article

BIOCHEMICAL CORRELATES OF ILLNESS AND RECOVERY IN REYE'S SYNDROME.TRAUNER D; SWEETMAN L; HOLM J et al.1977; ANN. NEUROL.; U.S.A.; DA. 1977; VOL. 2; NO 3; PP. 238-241; BIBL. 15 REF.Article

REEXPRESSION OF HPRT ACTIVITY FOLLOWING CELL FUSION WITH POLYETHYLENE GLYCOL.BAKAY B; GRAF M; CAREY S et al.1978; BIOCHEM. GENET.; USA; DA. 1978; VOL. 16; NO 3-4; PP. 227-237; BIBL. 1 P.Article