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Molecular Genetics and Metabolism Reports|March 5, 2019
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutationsA Moghe, V M S Ramanujam, J D Phillips, et al.Molecular Genetics and Metabolism|March 6, 1999
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23M Banikazemi, G A Diaz, P Vossough, et al.Journal of Inherited Metabolic Disease|October 13, 1999
Successful pregnancy in severe methylmalonic acidaemiaM P Wasserstein, S Gaddipati, S E Snyderman, et al.Cytogenetics and Cell Genetics|January 1, 1982
Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1E A Devine, M Smith, F X Arredondo-Vega, et al.Progress in Clinical and Biological Research|January 1, 1982
Chromosomal localization of the gene for Gaucher diseaseE A Devine, M Smith, F X Arredondo-Vega, et al.Archives of Environmental Health|March 1, 1997
Delta-aminolevulinic acid dehydratase polymorphism: influence on lead levels and kidney function in humansI A Bergdahl, L Gerhardsson, A Schütz, et al.Circulation|November 1, 1976
Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studiesR J Desnick, L C Blieden, H L Sharp, et al.The Pharmacogenomics Journal|April 12, 2012
Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypesS Martis, I Peter, J-S Hulot, et al.Human Genetics|July 1, 1987
Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridizationV R Potluri, K H Astrin, J G Wetmur, et al.Journal of the American Veterinary Medical Association|August 15, 1979
Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese catM E Haskins, P F Jezyk, R J Desnick, et al.Pageof 40