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Laboratory guide to the methods in biochemical genetics
TLDR
This guide to the methods in biochemical genetics highlights the importance of knowing the carrier and removal status of canine coronavirus to determine the carrier status of the virus.
Arginase Plays a Pivotal Role in Polyamine Precursor Metabolism in Leishmania
TLDR
This molecular, biochemical, and genetic dissection of ARG function in L. mexicana promastigotes establishes that the enzyme is essential for parasite viability, that Leishmania, unlike mammalian cells, expresses only one ARG activity, and that the sole vital function of ARg is to provide polyamine precursors for the parasite.
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
TLDR
It is concluded that although patients with mevalonic aciduria have a recognizable phenotype of serious clinical manifestations, some patients are likely to remain undiagnosed and may be found in a variety of subspecialty clinics, including neurology, gastroenterology, cardiology, and genetics.
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
TLDR
Diagnosis: hyperphenylalaninemia disorders of neurotransmitter metabolism GABA metabolism defects tyrosinemia, and related disorders lysosomal transport defects purine and pyrimidine disorders peroxisomal disorders.
Maleylacetoacetate Isomerase (MAAI/GSTZ)-Deficient Mice Reveal a Glutathione-Dependent Nonenzymatic Bypass in Tyrosine Catabolism
TLDR
The phenotype of mice with a targeted deletion of the MAAI (GSTZ1) gene is described to suggest that either accumulating MAA is not toxic or an alternate pathway for MAA metabolism exists, as well as demonstrating a glutathione-mediated isomerization of MAA to FAA independent of M AAI enzyme.
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
TLDR
It is established that 3-methylcrotonylglycinuria results from loss-of-function mutations in the genes encoding the alpha and beta subunits of MCC and complete the genetic characterization of the four human biotin-dependent carboxylases.
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
TLDR
Urine organic acid analysis should include a sensitive method for the detection of 4-hydroxybutyrate and should be obtained from patients with mental retardation or neuropsychiatric disturbance of unknown etiology, the authors say.
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease‐causing mutations in patients with SSADH deficiency
TLDR
The mutational spectrum in 48 additional unrelated families of different geographic origin was reported, detecting 27 novel mutations at the cDNA level, of which 26 could be attributed to changes at the genomic level and missense mutations are considered nonpathogenic allelic variants.
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