Chemical individuality : Concept and outlookGAHL, W. A.Journal of inherited metabolic disease. 2008, Vol 31, Num 5, pp 630-640, issn 0141-8955, 11 p.Article

Carbohydrate-deficient glycoprotein syndromeKRASNEWICH, D; GAHL, W. A.Advances in pediatrics. 1997, Vol 44, pp 109-140, issn 0065-3101Article

pH effects on cystine transport in lysosome-rich leucocyte granular fractionsGAHL, W. A; TIETZE, F.Biochemical journal (London. 1906). 1985, Vol 228, Num 1, pp 263-267, issn 0006-2936Article

Copper effects on metal regulatory factors of cultured human fibroblastsSI HOUN HAHN; GAHL, W. A.Biochemical medicine and metabolic biology. 1993, Vol 50, Num 3, pp 346-357, issn 0885-4505Article

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla diseaseRENLUND, M; TIETZE, F; GAHL, W. A et al.Science (Washington, D.C.). 1986, Vol 232, Num 4751, pp 759-762, issn 0036-8075Article

Cystine depletion by WR-1065 in cystinotic cells: mechanism of actionDEBROHUN BUTLER, J; GAHL, W. A; TIETZE, F et al.Biochemical pharmacology. 1985, Vol 34, Num 12, pp 2179-2185, issn 0006-2952Article

Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 geneTORO, J; TURNER, M; GAHL, W. A et al.Archives of dermatology (1960). 1999, Vol 135, Num 7, pp 774-780, issn 0003-987XConference Paper

The oculocerebrorenal syndrome of loweCHARNAS, L. R; GAHL, W. A.Advances in pediatrics. 1991, Vol 38, pp 75-107, issn 0065-3101Article

Complications of nephropathic cystinosis after renal failureGAHL, W. A; KAISER-KUPFER, M. I.Pediatric nephrology (Berlin, West). 1987, Vol 1, Num 3, pp 260-268, issn 0931-041XArticle

Altered protein localization in melanocytes from Hermansky-Pudlak syndrome : Support for the role of the HPS gene product in intracellular traffickingBOISSY, R. E; YANG ZHAO; GAHL, W. A et al.Laboratory investigation. 1998, Vol 78, Num 9, pp 1037-1048, issn 0023-6837Article

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzymeSEPPALA, R; LEHTO, V.-P; GAHL, W. A et al.American journal of human genetics. 1999, Vol 64, Num 6, pp 1563-1569, issn 0002-9297Article

Pancreatic exocrine insufficiency in a patient with nephropathic cystinosisFIVUSH, B; FLICK, J. A; GAHL, W. A et al.The Journal of pediatrics. 1988, Vol 112, Num 1, pp 49-51, issn 0022-3476Article

Decreased sweat production in cystinosisGAHL, W. A; HUBBARD, V. S; ORLOFF, S et al.The Journal of pediatrics. 1984, Vol 104, Num 6, pp 904-905, issn 0022-3476Article

High-performance ion-exchange chromatographic separation of proteoglycansHARPER, G. S; O'SHANNESSY, D. J; GAHL, W. A et al.Analytical biochemistry. 1986, Vol 159, Num 1, pp 150-156, issn 0003-2697Article

High-performance ion-exchange chromatographic separation of proteoglycansHARPER, G. S; O'SHANNESSY, D. J; GAHL, W. A et al.Analytical biochemistry. 1986, Vol 159, Num 1, pp 150-156, issn 0003-2697Article

Improved renal function in children with cystinosis treated with cysteamineMARKELLO, T. C; BERNARDINI, I. M; GAHL, W. A et al.The New England journal of medicine. 1993, Vol 328, Num 16, pp 1157-1162, issn 0028-4793Article

Distal vacuolar myopathy in nephropathic cystinosisCHARNAS, L. R; LUCIANO, C. A; DALAKAS, M et al.Annals of neurology. 1994, Vol 35, Num 2, pp 181-188, issn 0364-5134Article

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusKALER, S. G; GALLO, L. K; PROUD, V. K et al.Nature genetics. 1994, Vol 8, Num 2, pp 195-202, issn 1061-4036Article

Persistent hypermethioninaemia with dominant inheritanceBOLM, H. J; DAVIDSON, A. J; GAHL, W. A et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 2, pp 188-197, issn 0141-8955Article

Parenchymal organ cystine depletion with long-term cysteamine therapyGAHL, W. A; CHARNAS, L; MARKELLO, T. C et al.Biochemical medicine and metabolic biology. 1992, Vol 48, Num 3, pp 275-285, issn 0885-4505Article

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) fibroblasts of patients with infantile free sialic acid storage diseaseTIETZE, F; SEPPALA, R; RENLUND, M et al.The Journal of biological chemistry (Print). 1989, Vol 264, Num 26, pp 15316-15322, issn 0021-9258, 7 p.Article

Oral carnitine therapy in children with cystinosis and renal Fanconi syndromeGAHL, W. A; BERNARDINI, I; DALAKAS, M et al.The Journal of clinical investigation. 1988, Vol 81, Num 2, pp 549-560, issn 0021-9738Article

Removal of corneal crystals by topical cysteamine in nephropathic cystinosisKAISER-KUPFER, M. I; FUJIKAWA, L; KUWABARA, T et al.The New England journal of medicine. 1987, Vol 316, Num 13, pp 775-779, issn 0028-4793Article

Pancreatic endocrine insufficiency in posttransplant cystinosisFIVUSH, B; GREEN, O. C; PORTER, C. C et al.American journal of diseases of children (1960). 1987, Vol 141, Num 10, pp 1087-1089, issn 0002-922XArticle

A new variant of hermansky-pudlak syndrome due to mutations in a gene responsible for vesicle formationSHOTELERSUK, V; DELL'ANGELICA, E. C; HARTNELL, L et al.The American journal of medicine. 2000, Vol 108, Num 5, pp 423-427, issn 0002-9343Article