Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco +5 more
wiley +1 more source
A neonatal mouse model of meconium peritonitis generated using human meconium slurry
【Background】 Meconium peritonitis is a noninfectious chemical peritonitis that occurs following fetal intestinal perforation and leakage of meconium into the abdominal cavity.
Kido, Takumi +15 more
core +1 more source
Meconium Proteins Involved in Iron Metabolism
The lack of specific biological materials and biomarkers limits our knowledge of the mechanisms underlying intrauterine regulation of iron supply to the fetus.
Artur Jakimiuk +3 more
core +1 more source
Meconium periorchitis presenting as a para-testicular mass outside of the tunica vaginalis: case report. [PDF]
Zawerton AN, Steckler RE.
europepmc +1 more source
Early-mid gestation as a critical predictive window for infantile atopic dermatitis: A longitudinal multi-matrix metabolomic study. [PDF]
Fu X +7 more
europepmc +1 more source
Predictive value of fasting bile acids and liver enzymes for perinatal outcomes in intrahepatic cholestasis of pregnancy. [PDF]
Çıtırke A, Ağaoğlu Z, Şahin D.
europepmc +1 more source
Early-life microbiota in the LIMIT cohort: unveiling meconium microbiota types beyond maternal lifestyle. [PDF]
El Masri D +17 more
europepmc +1 more source
Nutritional Management for Infants with Cystic Fibrosis Born with Meconium Ileus: A 15-Year Review. [PDF]
Gemma S +4 more
europepmc +1 more source
Characteristics of Placental Bacterial DNA Communities in Pregnant Women with Gestational Diabetes Mellitus and Association with Early Neonatal Gut Microbiota and Short-Term Perinatal Outcomes. [PDF]
Qian Y +5 more
europepmc +1 more source

