Publications by authors named "C J Buzing"
[Congenital toxoplasmosis: severe ocular and neurological complications].
Ned Tijdschr Geneeskd
September 2011
Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased after 13 months.
View Article and Find Full Text PDFIdentification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.
Nucleosides Nucleotides Nucleic Acids
June 2008
Article Synopsis
- - A patient with hematuria exhibited thymine-uraciluria and had very low dihydropyrimidine dehydrogenase (DPD) activity in comparison to healthy controls.
- - Genetic analysis revealed the patient was compound heterozygous for two novel mutations in the DPYD gene: 237C > A (C79X) causing a non-functional protein and 704G > A (R235Q).
- - The C79X mutation results in a premature stop in protein production, while the R235Q mutation may disrupt how the enzyme binds to important molecules, affecting its function.
Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome.
Neuromuscul Disord
February 1993
A patient with the Pearson marrow and pancreas syndrome is presented. She showed an anaemia with neutropenia and thrombopenia, failure to thrive, diarrhoea, disturbed glucose homeostasis and lactic acidosis. An exocrine pancreatic insufficiency was lacking.
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