Results 131 to 140 of about 125,515 (325)
M. O'brien+5 more
semanticscholar +1 more source
Comment on Giraldo-Ocampo et al. B Cell Subsets in Colombian Adults with Predominantly Antibody Deficiencies, Bronchiectasis or Recurrent Pneumonia. <i>Adv. Respir. Med.</i> 2022, <i>90</i>, 254-266. [PDF]
Shafaei B.
europepmc +1 more source
D. Moore+20 more
semanticscholar +1 more source
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley +1 more source
Efficacy and Safety of Dolutegravir/Lamivudine in Antiretroviral Therapy-Naive People Living With HIV-1 and With High-Level Viremia. [PDF]
Calza L+6 more
europepmc +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue+16 more
wiley +1 more source
Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections. [PDF]
Sparanese S+3 more
europepmc +1 more source
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods+16 more
wiley +1 more source
Pneumonija kod bolesnika sa imunskim deficitom [PDF]
Marinković Olivera, Aćimović Slobodan
doaj +1 more source