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MONOAMINE OXIDASE ACTIVITY REDUCED IN CULTURED HUMAN FETAL CELLS DEFICIENT IN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE ACTIVITYSKAPER SD; SCHAFER IA.1978; BIOCHEM. GENET.; USA; DA. 1978; VOL. 16; NO 11-12; PP. 1135-1138; BIBL. 9 REF.Article

NEUROCHEMISTRY OF THE MUCOPOLYSACCHARIDOSES: BRAIN GLYCOSAMINOGLYCANS, LIPIDS AND LYSOSOMAL ENZYMES IN MUCOPOLYSACCHARIDOSIS TYPE III B (ALPHA -N-ACETYLGLUCOSAMINIDASE DEFICIENCY)CONSTANTOPOULOS G; EIBEN RM; SCHAFER IA et al.1978; J. NEUROCHEM.; GBR; DA. 1978; VOL. 31; NO 5; PP. 1215-1222; BIBL. 24 REF.Article

STRUCTURAL STUDIES OF HUMAN PLACENTAL DERMATAN SULFATE DURING DEVELOPMENT USING OPTICAL MIXING SPECTROSCOPYJAMIESON AM; TING YANG LEE; SCHAFER IA et al.1974; BIOPOLYMERS; U.S.A.; DA. 1974; VOL. 13; NO 10; PP. 2133-2146; BIBL. 36REF.Article

CARRIER DETECTION IN ORNITHINE TRANSCARBAMYLASE DEFICIENCYHOKANSON JT; O'BRIEN WE; IDEMOTO J et al.1978; J. PEDIATR.; USA; DA. 1978; VOL. 93; NO 1; PP. 75-78; BIBL. 9 REF.Article

PRENATAL IDENTIFICATION OF PATERNITY: HLA TYPING HELPFUL AFTER RAPEPOLLACK MS; SCHAFER IA; BARFORD D et al.1980; JAMA, J. AM. MED. ASSOC.; ISSN 0098-7484; USA; DA. 1980; VOL. 244; NO 17; PP. 1954-1956; BIBL. 11 REF.Article

APPARENT NORMAL LEUKOCYTE ACID MALTASE ACTIVITY IN GLYCOGEN STORAGE DISEASE TYPE II (POMPE'S DISEASE)POTTER JL; ROBINSON HB JR; KRAMER JD et al.1980; CLIN. CHEM.; ISSN 0009-9147; USA; DA. 1980; VOL. 26; NO 13; PP. 1914-1915; BIBL. 19 REF.Article

THE EFFECTS OF N-HEXYL-O-GLUCOSYL SPHINGOSINE ON NORMAL CULTURED HUMAN FIBROBLASTS: A CHEMICAL MODEL FOR GAUCHER'S DISEASEWARREN KR; SCHAFER IA; SULLIVAN JC et al.1976; J. LIPID RES.; U.S.A.; DA. 1976; VOL. 17; NO 2; PP. 132-138; BIBL. 1 P.Article

AN AUTOSOMAL DOMINANT MIDLINE CLEFT SYNDROME RESEMBLING FAMILIAL HOLOPROSENCEPHALY.MARTIN AO; PERRIN JCS; MUIR WA et al.1977; CLIN. GENET.; DENM.; DA. 1977; VOL. 12; NO 2; PP. 65-72; BIBL. 4 REF.Article

PRENATAL DIAGNOSIS OF MAROTEAUX-LAMY SYNDROMEVAN DYKE DL; FLUHARTY AL; SCHAFER IA et al.1981; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1981; VOL. 8; NO 2; PP. 235-242; BIBL. 9 REF.Article

SESCH-NYHAN SYNDROME. REPOSITORY IDENTIFICATION NOS GM-2290, 2291, 2292, 2338, 3115, 3116, AND 3117TISCHFIELD J; SCHAFER IA; DICKERMAN LH et al.1979; CYTOGENET. CELL. GENET.; CHE; DA. 1979; VOL. 24; NO 3Article

THERAPY OF UREA CYCLE ENZYMOPATHIES: THREE CASE STUDIESBATSHAW ML; PAINTER MJ; SPROUL GJ et al.1981; JOHNS HOPKINS MED. J.; ISSN 0021-7263; USA; DA. 1981; VOL. 148; NO 1; PP. 34-40; BIBL. 20 REF.Article

TREATMENT OF INBORN ERRORS OF UREA SYNTHESIS: ACTIVATION OF ALTERNATIVE PATHWAYS OF WASTE NITROGEN SYNTHESIS AND EXCRETIONBATSHAW ML; BRUSILOW S; WABER L et al.1982; N. ENGL. J. MED.; ISSN 0028-4793; USA; DA. 1982; VOL. 306; NO 23; PP. 1387-1392; BIBL. 14 REF.Article

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