HD04608/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1980	1
1981	4
1982	1
1983	1
1984	8
1985	5
1986	3
1987	2
1988	3
1989	4
1990	5
1991	2
2024	0

1

Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.

Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL. Wolf B, et al. Pediatrics. 1981 Jul;68(1):113-8. Pediatrics. 1981. PMID: 6787561

2

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.

Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, et al. Hoffmann GF, et al. Clin Chim Acta. 1991 May 15;198(3):209-27. doi: 10.1016/0009-8981(91)90355-g. Clin Chim Acta. 1991. PMID: 1653652

3

Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts.

Gibson KM, Sweetman L, Jansen I, Brown GK, Haan EA, Danks DM, Nyhan WL. Gibson KM, et al. J Neurogenet. 1985 Apr;2(2):111-22. doi: 10.3109/01677068509100146. J Neurogenet. 1985. PMID: 4020531

4

Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.

Rhead WJ, Wolff JA, Lipson M, Falace P, Desai N, Fritchman K, Moon A, Sweetman L. Rhead WJ, et al. Pediatr Res. 1987 Apr;21(4):371-6. doi: 10.1203/00006450-198704000-00010. Pediatr Res. 1987. PMID: 3574988

5

Deficiency of carnitine palmitoyltransferase I.

Bonnefont JP, Haas R, Wolff J, Thuy LP, Buchta R, Carroll JE, Saudubray JM, Demaugre F, Nyhan WL. Bonnefont JP, et al. J Child Neurol. 1989 Jul;4(3):198-203. doi: 10.1177/088307388900400310. J Child Neurol. 1989. PMID: 2768784

6

Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase.

McMillan TA, Gibson KM, Sweetman L, Meyers GS, Green R. McMillan TA, et al. J Biol Chem. 1988 Nov 25;263(33):17258-61. J Biol Chem. 1988. PMID: 3182847 Free article.

7

Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid.

Jakobs C, Sweetman L, Nyhan WL. Jakobs C, et al. Clin Chim Acta. 1984 Jul 16;140(2):157-66. doi: 10.1016/0009-8981(84)90340-1. Clin Chim Acta. 1984. PMID: 6467607

8

Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

Burri BJ, Sweetman L, Nyhan WL. Burri BJ, et al. Am J Hum Genet. 1985 Mar;37(2):326-37. Am J Hum Genet. 1985. PMID: 3920902 Free PMC article.

9

Multiple carboxylase deficiency due to deficiency of biotinidase.

Thuy LP, Zielinska B, Zammarchi E, Pavari E, Vierucci A, Sweetman F, Sweetman L, Nyhan WL. Thuy LP, et al. J Neurogenet. 1986 Nov;3(6):357-63. doi: 10.3109/01677068609106859. J Neurogenet. 1986. PMID: 3783319

10

Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.

Hoffmann G, Gibson KM, Nyhan WL, Sweetman L. Hoffmann G, et al. J Inherit Metab Dis. 1988;11 Suppl 2:229-32. doi: 10.1007/BF01804243. J Inherit Metab Dis. 1988. PMID: 2846965 No abstract available.

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