Results 241 to 250 of about 55,537 (299)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Morphea Induced by Golimumab in a Patient With Ankylosing Spondylitis: A Case Report and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Morphea is a localized autoimmune fibrosing disorder that may paradoxically develop during anti‐TNFα agents in ankylosing spondylitis (AS). We report a second case of morphea associated with long‐term golimumab use in a patient with AS, presenting with indurated plaques and confirmed histopathologically.
Faten Hilwanjee   +3 more
wiley   +1 more source

Outcomes of Universal Newborn G6PD Deficiency Screening in a Large Urban Cohort. [PDF]

open access: yesPediatrics
Dalldorf K   +17 more
europepmc   +1 more source

Liver Transplantation Outcomes in Crigler‐Najjar Syndrome in Iran: A Single‐Center Retrospective Cohort Study Over 20 Years

open access: yesHealth Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Crigler‐Najjar Syndrome (CNS) is a rare autosomal recessive disorder caused by uridine diphosphate glucuronosyltransferase (UGT1A1) deficiency, leading to unconjugated hyperbilirubinemia. Without treatment, patients are at high risk of kernicterus and irreversible neurological damage.
Sajad Teimoury   +6 more
wiley   +1 more source

The Current Use and Future Perspectives of Biosimilars in Pediatric Healthcare: A Narrative Review

open access: yesHealth Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims The integration of biosimilars into pediatric healthcare represents a significant evolution in treatment accessibility and cost‐effectiveness. Biosimilars—biological products highly similar to already approved biologics, have emerged as promising alternatives for managing chronic and rare pediatric conditions, including ...
Zubaier Ahmed   +6 more
wiley   +1 more source

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