Results 31 to 40 of about 1,194,112 (311)
Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases [PDF]
Background: Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages.
Boussery, Koen +7 more
core +2 more sources
CRF07_BC is one of the most prevalent HIV-1 strains in China, which contributes over one-third of the virus transmissions in the country. In general, CRF07_BC is associated with slower disease progression, while the underlying mechanisms remain unclear ...
Xiaoyan Hu +11 more
doaj +1 more source
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 more
core +1 more source
Recent studies highlighted that CD8+ T cells are necessary for restraining reservoir in HIV-1-infected individuals who undergo antiretroviral therapy (ART), whereas the underlying cellular and molecular mechanisms remain largely unknown.
Wei Hu +35 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
The aging process includes impairment in mitochondrial function, a reduction in anti-oxidant activity, and an increase in oxidative stress, marked by an increase in reactive oxygen species (ROS) production.
Barcelos, Isabella Peixoto de +1 more
core +1 more source
Background: Seeing that there are no data about associations between serotonin gene polymorphism and tryptophan catabolite concentration during PEG-IFN-α2a treatment, the aim of the current study is to examine (a) the associations between polymorphisms ...
Tomasz Pawlowski +9 more
doaj +1 more source
A Computational Approach for Identifying Plant-Based Foods for Addressing Vitamin Deficiency Diseases [PDF]
Vitamins are nutrients that are essential to human health, and deficiencies have been shown to cause severe diseases. In this study, a computational approach was used to identify vitamin deficiency diseases and plant-based foods with vitamin content ...
Sarkar, Indra Neil, Yu, Christina
core +1 more source
Orthotopic liver transplantation for urea cycle enzyme deficiency [PDF]
Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14‐day‐old boy with carbamyl phosphate synthetase‐I deficiency and in a 35‐yr‐old man with ...
Bachmann +16 more
core +1 more source
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source

