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Neurology|January 26, 2006
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trialsM M McGovern, A Aron, S E Brodie, et al.
Genomics|January 15, 1994
Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAsA H Kaya, M Plewinska, D M Wong, et al.
Molecular Medicine (Cambridge, Mass.)|December 22, 1999
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP)C Solis, I Lopez-Echaniz, D Sefarty-Graneda, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 1, 1979
Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymesR J Desnick, K J Dean, G Grabowski, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 1, 1979
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria"D K Rassin, L D Fleisher, A Muir, et al.
Glycobiology|March 8, 2000
Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharidesM Ohta, T Ohnishi, Y A Ioannou, et al.
Biochemical and Molecular Medicine|December 1, 1996
Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis geneB D Gelb, K Moissoglu, J Zhang, et al.
Birth Defects Original Article Series|January 1, 1980
Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry diseaseR J Desnick, K J Dean, G A Grabowski, et al.
Neurology|July 1, 1981
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine casesJ P Willner, G A Grabowski, R E Gordon, et al.
The American Journal of Pathology|July 1, 1983
The pathology of the feline model of mucopolysaccharidosis IM E Haskins, G D Aguirre, P F Jezyk, et al.
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