Results 191 to 200 of about 63,582 (298)

Inborn errors [PDF]

Bone Marrow Transplantation, 2001
openaire   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Correction to "Long-Term Follow-Up of Patients With Transaldolase Deficiency". [PDF]

J Inherit Metab Dis
europepmc   +1 more source

TCR-αβ/CD 19 Depleted Graft Versus T Replete Graft With Post-Transplant Cyclophosphamide in Children Undergoing Haploidentical Donor Hematopoietic Stem Cell Transplantation for Inborn Errors of Immunity: A Comparative Analysis From India. [PDF]

Pediatr Transplant
Nalla AR, Ganesan K, Muthukumar V, Balwani M, Seshadri N, Krishnakumar K, Uppuluri R, Raj R.   +7 more
europepmc   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Values and preferences of patients with inborn errors of immunity and their caregivers: a systematic review. [PDF]

Front Immunol
Rayner DG, Nakhla M, Ologundudu L, Sustrova V, Garkaby J, Zhu R.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Outborn Neonates in Nairobi's Public Hospitals: Mortality Burden and Risk Factors. [PDF]

Wellcome Open Res
Wainaina J, Gachohi J, Aluvaala J.
europepmc   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson, Madeline P. Bald, Lauren McLeod, Adam J. Skelton, Nicolaus D. Knight, Do‐Yeon Cho, Justin Turner, Hari Jeyarajan, Kristen O. Riley, Bradford A. Woodworth   +9 more
wiley   +1 more source

Interplay of anemia in inborn errors of energy metabolism. [PDF]

Sci Rep
Shetye S, Bhat YR, Lewis LES, Patil A, Bhaskaranand N, Varashree BS, Kamath SU.   +6 more
europepmc   +1 more source