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

por Shani, N, Valle, D
Publicado 1996

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

por Shani, N, Watkins, P A, Valle, D
Publicado 1995

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

por Wang, T, Milam, A H, Steel, G, Valle, D
Publicado 1996

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

por Valle, D, Goodman, S I, Harris, S C, Phang, J M
Publicado 1979

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

por Valle, D, Walser, M, Brusilow, S W, Kaiser-Kupfer, M
Publicado 1980

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

por Valle, D, Kaiser-Kupfer, M I, Del Valle, L A
Publicado 1977

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

por Hofman, K J, Steel, G, Kazazian, H H, Valle, D
Publicado 1991

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

por Uriondo San Juan, B., Naval Valle, D., Moreno Izco, F.
Publicado en Aten Primaria (2004)

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

por Kuo, F C, Hwu, W L, Valle, D, Darnell, J E
Publicado 1991

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

por Warren, D S, Morrell, J C, Moser, H W, Valle, D, Gould, S J
Publicado 1998

Hydroxocobalamin dose escalation improves metabolic control in cblC

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

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

por Valle, D, Goodman, S I, Applegarth, D A, Shih, V E, Phang, J M
Publicado 1976

The DPYSL2 gene connects mTOR and schizophrenia

por Pham, X, Song, G, Lao, S, Goff, L, Zhu, H, Valle, D, Avramopoulos, D
Publicado en Transl Psychiatry (2016)

Bilateral anterior uveitis as a presenting manifestation of sarcoidosis and syphilis

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

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

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

Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

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

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

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

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

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

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

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

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

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