A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters.

Autor Shani, N, Valle, D
Vydáno 1996

PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene.

Autor Shani, N, Watkins, P A, Valle, D
Vydáno 1995

A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.

Autor Wang, T, Milam, A H, Steel, G, Valle, D
Vydáno 1996

Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.

Autor Valle, D, Goodman, S I, Harris, S C, Phang, J M
Vydáno 1979

Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.

Autor Valle, D, Walser, M, Brusilow, S W, Kaiser-Kupfer, M
Vydáno 1980

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Autor Valle, D, Kaiser-Kupfer, M I, Del Valle, L A
Vydáno 1977

Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

Autor Hofman, K J, Steel, G, Kazazian, H H, Valle, D
Vydáno 1991

Síndrome de Guillain- Barré postinmunización con vacunas antihepatitis A y antifoidea

Autor Uriondo San Juan, B., Naval Valle, D., Moreno Izco, F.
Vydáno v Aten Primaria (2004)

Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA.

Autor Kuo, F C, Hwu, W L, Valle, D, Darnell, J E
Vydáno 1991

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

Autor Warren, D S, Morrell, J C, Moser, H W, Valle, D, Gould, S J
Vydáno 1998

Hydroxocobalamin dose escalation improves metabolic control in cblC

Autor Carrillo-Carrasco, N., Sloan, J., Valle, D., Hamosh, A., Venditti, C. P.
Vydáno 2009

Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.

Autor Valle, D, Goodman, S I, Applegarth, D A, Shih, V E, Phang, J M
Vydáno 1976

The DPYSL2 gene connects mTOR and schizophrenia

Autor Pham, X, Song, G, Lao, S, Goff, L, Zhu, H, Valle, D, Avramopoulos, D
Vydáno v Transl Psychiatry (2016)

Bilateral anterior uveitis as a presenting manifestation of sarcoidosis and syphilis

Autor Díaz-Valle, D, Toledano, N, Miguélez, R, Benítez del Castillo, J M, Barros, C
Vydáno 2002

Human Δ(1)-pyrroline-5-carboxylate synthase: Function and regulation

Autor Hu, C.-A. A., Khalil, S., Zhaorigetu, S., Liu, Z., Tyler, M., Wan, G., Valle, D.
Vydáno 2008

Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Autor Migeon, B R, Axelman, J, Jan de Beur, S, Valle, D, Mitchell, G A, Rosenbaum, K N
Vydáno 1989

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

Autor Yahraus, T, Braverman, N, Dodt, G, Kalish, J E, Morrell, J C, Moser, H W, Valle, D, Gould, S J
Vydáno 1996

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Autor Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Vydáno 1988

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

Autor Mitchell, G A, Labuda, D, Fontaine, G, Saudubray, J M, Bonnefont, J P, Lyonnet, S, Brody, L C, Steel, G, Obie, C, Valle, D
Vydáno 1991

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

Autor Hatzimanolis, A, McGrath, J A, Wang, R, Li, T, Wong, P C, Nestadt, G, Wolyniec, P S, Valle, D, Pulver, A E, Avramopoulos, D
Vydáno 2013