Search Results - "Freehauf, C. L."

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia by Wolf, B., Freehauf, C. L., Thomas, J. A., Gordon, P. L., Greene, C. L., Ward, J. C.

“…We report two children who presented with symptoms suggestive of biotinidase deficiency. Rather than deficiency, markedly elevated serum biotinidase activities…”
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Mouse erythrocyte carriers osmotically loaded with methotrexate by Kruse, C A, Freehauf, C L, Patel, K R, Baldeschwieler, J D

“…The mouse red blood cell (RBC) and red blood cell ghost (RBCG) have been studied as carriers of methotrexate (MTX). When incubated with high concentrations of…”
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Natural history of the recombinant (8) syndrome by Sujansky, E, Smith, A C, Prescott, K E, Freehauf, C L, Clericuzio, C, Robinson, A

“…The recombinant 8[Rec(8)] syndrome [rec(8), (8qter-->8q22.1::8p23.1-->8qter] is due to a parental inv(8)(8pter-->8p23.1::8q22.1-->8p23.1::8q22+ ++.1-->8qter)…”
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Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures by Freehauf, C L, Lezotte, D, Goodman, S I, McCabe, E R

“…Absence of a convenient, direct enzyme assay for detecting phenylketonuria (PKU) heterozygotes has resulted in continued effort to develop an accurate and…”
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Role of electron microscopy in the diagnosis of mitochondrial cytopathies by Mierau, Gary W, Tyson, R Weslie, Freehauf, Cynthia L

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Carrier screning for phenylketonuria: Comparison of two discriminant analysis procedures by Freehauf, CL, Lezotte, D, Goodman, SI, McCabe, ERB

“…Absence of a convenient, direct enzyme assay for detecting phenylketonuria (PKU) heterozygotes has resulted in cotinued effort to develop an accurate and…”
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