Am J Med Genet A. 2024 Apr 4:e63622. doi: 10.1002/ajmg.a.63622. Online ahead of print. ABSTRACT Nonketotic hyperglycinemia (NKH) is a relatively well-characterized inborn error of …
J Paediatr Child Health. 2024 Apr 4. doi: 10.1111/jpc.16540. Online ahead of print. ABSTRACT AIM: Hormone replacement therapy with testosterone for pubertal induction in boys …
J Dent Educ. 2024 Apr 4. doi: 10.1002/jdd.13539. Online ahead of print. ABSTRACT PURPOSE/OBJECTIVES: Treating intraosseous lesions (IOLs) and interradicular bone lesions (IRLs) is an …
Pediatr Blood Cancer. 2024 Apr 4:e30958. doi: 10.1002/pbc.30958. Online ahead of print. ABSTRACT BACKGROUND: This study aimed to validate a Composite Pain Index (CPI) as …
Diabetes Res Clin Pract. 2024 Apr 1:111647. doi: 10.1016/j.diabres.2024.111647. Online ahead of print. ABSTRACT Hajj is an obligatory duty for all healthy adult Muslims once …
Rinsho Ketsueki. 2024;65(3):175-179. doi: 10.11406/rinketsu.65.175. ABSTRACT A 3-year-old boy was referred to our hospital with splenomegaly. Blood tests revealed hyperleukocytosis and bone marrow examination showed …
J Neurosci. 2024 Apr 3:e2215232024. doi: 10.1523/JNEUROSCI.2215-23.2024. Online ahead of print. ABSTRACT Proteoglycans containing link-domains modify the extracellular matrix (ECM) to regulate cellular homeostasis and …
Mayo Clin Proc. 2024 Apr;99(4):610-629. doi: 10.1016/j.mayocp.2023.11.003. ABSTRACT Over the past 2 decades, significant efforts have been made to advance gene therapy into clinical practice. …
Endocr J. 2024 Apr 4. doi: 10.1507/endocrj.EJ24-0109. Online ahead of print. ABSTRACT Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and …
Rinsho Ketsueki. 2024;65(3):164-168. doi: 10.11406/rinketsu.65.164. ABSTRACT Congenital protein C (PC) deficiency is one type of hereditary thrombosis. Patients with hereditary thrombosis are at high risk …
