Results 181 to 190 of about 59,465 (261)
Acepromazine Reduces Airway Contraction in a Murine Model of Asthma. [PDF]
Lino-Alvarado A +6 more
europepmc +1 more source
ABSTRACT H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.
Mohammad Najajrah +5 more
wiley +1 more source
Correlation between anemia-related red blood cell parameters and pulmonary function severity in patients with AECOPD. [PDF]
Dou H +8 more
europepmc +1 more source
ABSTRACT Gaucher disease is a rare autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme “β‐glucocerebrosidase”, leading to the accumulation of glucocerebroside within macrophages. It commonly presents with hepatosplenomegaly, cytopenias, and bone marrow infiltration.
Muhammad Waqas +9 more
wiley +1 more source
Secretion of the HBV small surface antigen is driven by an ER autophagic pathway. [PDF]
Cao H +9 more
europepmc +1 more source
Imerslund‐Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in the AMN Gene: A Case Report
ABSTRACT The 7‐year‐old girl had recurrent anemia for 6 years, showing large cell anemia. The parent‐derived AMN double heterozygous mutation was detected to confirm the diagnosis of IGS. The hemogram was normal after intramuscular injection of vitamin B12, and there were no other complications.
Cheng Chen +8 more
wiley +1 more source
Modulation of accumbens dopamine by MCH neurons during learning and consummatory behavior. [PDF]
Potter LE +6 more
europepmc +1 more source
Analysis of ~1000 adults shows cytokine gene variants are more strongly associated with hematological and metabolic traits than fitness classification. IL6 and TNF‐α variants link to iron status and aerobic fitness, with exploratory multi‐locus effects involving IL15. ABSTRACT Genetic variation in cytokine genes may influence cytokine‐related signaling,
Kinga Humińska‐Lisowska +6 more
wiley +1 more source
Machine learning of laboratory parameters to predict mortality risk in pediatric hemophagocytic lymphohistiocytosis: a retrospective single-center study. [PDF]
Wu C +7 more
europepmc +1 more source

