Newborn screening for Fabry disease in Japan: an additional 3-year report. [PDF]
Mol Genet Metab RepSawada T +6 more
europepmc +1 more source
Advanced Science, EarlyView.Sepsis‑induced pediatric acute respiratory distress syndrome suppresses FOXF1 in lung endothelial cells which causes life‐threatening lung damage. To counter this, researchers developed nanoparticles that specifically target these cells and deliver FOXF1 mRNA.
Zicheng Deng +14 more
wiley +1 more source
Optimizing TREC- and KREC-based newborn screening: Risk-stratified algorithms significantly reduce referrals. [PDF]
Pediatr Allergy ImmunolSoomann M +4 more
europepmc +1 more source
Cystic Fibrosis Newborn Screening: Cost Trajectory as a Marker to Improve Health Outcomes. [PDF]
Pediatr PulmonolShenoy A, Southern K.
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Process, outcomes and feasibility of implementing universal newborn screening programme in Sri Lanka. [PDF]
BMC PediatrMettananda S +6 more
europepmc +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening. [PDF]
Child Abuse NeglLang SH +5 more
europepmc +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source