pH effects on cystine transport in lysosome-rich leucocyte granular fractions.

Por Gahl, W A, Tietze, F
Publicado em 1985

Polyamine degradation in foetal and adult bovine serum.

Por Gahl, W A, Pitot, H C
Publicado em 1982

Reply to Ménasché et al.

Por Huizing, Marjan, Anikster, Y., Gahl, W. A.
Publicado em 2002

NTBC and alkaptonuria.

Por Anikster, Y, Nyhan, W L, Gahl, W A
Publicado em 1998

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Por Seppala, R, Lehto, V P, Gahl, W A
Publicado em 1999

Separation of putrescine oxidase and spermidine oxidase in foetal bovine serum with the aid of a specific radioactive assay of spermidine oxidase.

Por Gahl, W A, Vale, A M, Pitot, H C
Publicado em 1980

Spermidine oxidase in human pregnancy serum. Probable identity with diamine oxidase.

Por Gahl, W A, Vale, A M, Pitot, H C
Publicado em 1982

Lysosomal cystine counter-transport in heterozygotes for cystinosis.

Por Gahl, W A, Bashan, N, Tietze, F, Schulman, J D
Publicado em 1984

Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange.

Por Gahl, W A, Tietze, F, Butler, J D, Schulman, J D
Publicado em 1985

Cystine storage in cultured myotubes from patients with nephropathic cystinosis.

Por Harper, G S, Bernardini, I, Hurko, O, Zuurveld, J, Gahl, W A
Publicado em 1987

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.

Por Bernardini, I, Rizzo, W B, Dalakas, M, Bernar, J, Gahl, W A
Publicado em 1985

Metabolism of pantethine in cystinosis.

Por Wittwer, C T, Gahl, W A, Butler, J D, Zatz, M, Thoene, J G
Publicado em 1985

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.

Por Blom, H J, Andersson, H C, Seppala, R, Tietze, F, Gahl, W A
Publicado em 1990

Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts.

Por Tietze, F, Rome, L H, Butler, J D, Harper, G S, Gahl, W A
Publicado em 1986

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions.

Por Gahl, W A, Tietze, F, Bashan, N, Bernardini, I, Raiford, D, Schulman, J D
Publicado em 1983

Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester.

Por Steinherz, R, Tietze, F, Gahl, W A, Triche, T J, Chiang, H, Modesti, A, Schulman, J D
Publicado em 1982

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.

Por Gahl, W A, Bernardini, I, Dalakas, M, Rizzo, W B, Harper, G S, Hoeg, J M, Hurko, O, Bernar, J
Publicado em 1988

Genetic screening in Iranian patients with retinoblastoma

Por Shahraki, K, Ahani, A, Sharma, P, Faranoush, M, Bahoush, G, Torktaz, I, Gahl, W A, Naseripour, M, Behnam, B
Publicado no Eye (Lond) (2017)

CTNS mutations in an American-based population of cystinosis patients.

Por Shotelersuk, V, Larson, D, Anikster, Y, McDowell, G, Lemons, R, Bernardini, I, Guo, J, Thoene, J, Gahl, W A
Publicado em 1998

Hermansky-Pudlak syndrome: the importance of molecular subtyping

Por Thielen, N., Huizing, M., Krabbe, J.G., White, J.G., Jansen, T.J., Merle, P.A., Gahl, W.A., Zweegman, S.
Publicado em 2010