Jess Thoene1
Sandra C. Van Calcar1
Victoria Nankabirwa1
1Jess Thoene
1Sandra C. Van Calcar
1Victoria Nankabirwa
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The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the(More)
  • Harriet Nuwagaba-Biribonwoha, Bazghina Werq-Semo, Aziz Abdallah, Amy Cunningham, John G Gamaliel, Sevestine Mtunga +7 others
  • 2010
BACKGROUND In Tanzania, less than a third of HIV infected children estimated to be in need of antiretroviral therapy (ART) are receiving it. In this setting where other infections and malnutrition mimic signs and symptoms of AIDS, early diagnosis of HIV among HIV-exposed infants without specialized virologic testing can be a complex process. We aimed to(More)
Provision of health care to patients during and after events like those which occurred in association with hurricanes Katrina and Rita poses particular difficulties for rare disease patients, including those with genetic/metabolic diseases. In this summary, we recount the obstacles encountered in attempting to maintain and restore essential medical care to(More)
Sapropterin dihydrochloride is used to lower blood phenylalanine levels in tetrahydrobiopterin-responsive phenylketonuria in conjunction with a phenylalanine-restricted diet. This study investigated the solubility and stability of sapropterin tablets and a sapropterin powder formulation when mixed in selected beverages and foods. Solubility was partial for(More)
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