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GLUTARIC ACIDURIA TYPE II: IN VITRO STUDIES ON SUBSTRATE OXIDATION, ACYL-COA DEHYDROGENASES, AND ELECTRON-TRANSFERRING FLAVOPROTEIN IN CULTURED SKIN FIBROBLASTSRHEAD W; MANTAGOS S; TANAKA K et al.1980; PEDIATR. RES.; ISSN 0031-3998; USA; DA. 1980; VOL. 14; NO 12; PP. 1339-1342; BIBL. 31 REF.Article

Complementation analysis of fatty acid oxidation disordersMOON, A; RHEAD, W. J.The Journal of clinical investigation. 1987, Vol 79, Num 1, pp 59-64, issn 0021-9738Article

Complementation analysis of fatty acid oxidation disordersMOON, A; RHEAD, W. J.The Journal of clinical investigation. 1987, Vol 79, Num 1, pp 59-64, issn 0021-9738Article

Phenylketonuria in adulthood: A collaborative studyKOCH, R; BURTON, B; NELSON, M et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 5, pp 333-346, issn 0141-8955, 14 p.Article

L-Pipecolic acid oxidation in the rabbit and cynomolgus monkey: evidence for differing organellar locations and cofactor requirements in each speciesMIHALIK, S. J; RHEAD, W. J.The Journal of biological chemistry (Print). 1989, Vol 264, Num 5, pp 2509-2517, issn 0021-9258Article

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency: lack of both cofactor responsiveness and biochemical heterogeneity in eight patientsAMENDT, B. A; RHEAD, W. J.The Journal of clinical investigation. 1985, Vol 76, Num 3, pp 963-969, issn 0021-9738Article

Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin : substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblastsRHEAD, W; ROETTGER, V; MARSHALL, T et al.Pediatric research. 1993, Vol 33, Num 2, pp 129-135, issn 0031-3998Article

Tetrahydrobiopterin deficiency in human rabiesWILLOUGHBY, R. E; OPLADEN, T; MAIER, T et al.Journal of inherited metabolic disease. 2009, Vol 32, Num 1, pp 65-72, issn 0141-8955, 8 p.Conference Paper

Deficient muscle carnitine transport in primary carnitine deficiencyPONS, R; CARROZZO, R; TEIN, I et al.Pediatric research. 1997, Vol 42, Num 5, pp 583-587, issn 0031-3998Article

Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencySPERL, W; GEIGER, R; LEHNERT, W et al.European journal of pediatrics. 1997, Vol 156, Num 10, pp 800-802, issn 0340-6199Article

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the geneKOLVRAA, S; GREGERSEN, N; BOLUND, L et al.Human genetics. 1991, Vol 87, Num 4, pp 425-428, issn 0340-6717Article

Prenatal ultrasound findings in hydrolethalus : continuing difficulties in diagnosisNORGARD, M; YANKOWITZ, J; RHEAD, W et al.Prenatal diagnosis. 1996, Vol 16, Num 2, pp 173-179, issn 0197-3851Article

Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormalityIONASESCU, V; PATIL, S; HART, M et al.American journal of medical genetics. 1987, Vol 26, Num 1, pp 189-194, issn 0148-7299Article

Species variation in organellar location and activity of L-pipecolic acid oxidation in mammalsMIHALIK, S. J; RHEAD, W. J.Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology. 1991, Vol 160, Num 6, pp 671-676, issn 0174-1578, 6 p.Article

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria: mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblastsAMENDT, B. A; RHEAD, W. J.The Journal of clinical investigation. 1986, Vol 78, Num 1, pp 205-213, issn 0021-9738Article

Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduriaRHEAD, W. J; AMENDT, B. A.Journal of inherited metabolic disease. 1984, Num 2, pp 99-100, issn 0141-8955, supplArticle

Purified U5 small nuclear ribonucleoprotein can relieve the inhibition of spliceosome assembly and splicing by snRNP-free nuclear proteinsTAZI, J; TEMSAMANI, J; ALIBERT, C et al.Nucleic acids research. 1989, Vol 17, Num 13, pp 5223-5243, issn 0305-1048Article

Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormalityIONASESCU, V; PATIL, S; HART, M et al.American journal of medical genetics. 1987, Vol 26, Num 1, pp 189-194, issn 0148-7299Article

Long-chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patientsAMENDT, B. A; MOON, A; TEEL, L et al.Pediatric research. 1988, Vol 23, Num 6, pp 603-605, issn 0031-3998, 3 p.Article

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activitiesACARREGUI, M. J; GEORGE, T. N; RHEAD, W. J et al.The Journal of pediatrics. 1998, Vol 133, Num 5, pp 697-700, issn 0022-3476Article

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segmentARDINGER, H. H; PATIL, S. R; RHEAD, W. J et al.Clinical genetics. 1987, Vol 31, Num 6, pp 381-385, issn 0009-9163Article

14C-Labeled substrate catabolism by human diploid fibroblasts derived from infants and adultsRHEAD, W. J; MOON, A; ROETTGER, V et al.Biochemical medicine. 1985, Vol 34, Num 2, pp 182-188, issn 0006-2944Article

AbetalipoproteinemiaJUDISCH, G. F; RHEAD, W. J; MILLER, D. K et al.Ophthalmologica (Basel). 1984, Vol 189, Num 1-2, pp 73-79, issn 0030-3755Article

Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydropsATKIN, J; SNOW, J. W. JR; ZELLWEGER, H et al.European journal of pediatrics. 1984, Vol 142, Num 2, issn 0340-6199, 150Article

Glutaric acidemia type II : heterogeneity in β-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the α subunit of electron transfer flavoprotein in eight patientsFRENEAUX, E; SHEFFIELD, V. C; MOLIN, L et al.The Journal of clinical investigation. 1992, Vol 90, Num 5, pp 1679-1686, issn 0021-9738Article

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