<span class="vcard">John Joseph</span>
John Joseph

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant

Clin Genet. 2025 Dec 3. doi: 10.1111/cge.70119. Online ahead of print. ABSTRACT This case highlights the complexity of diagnosing dual rare metabolic diseases and the …

Prognostic utility of pre-biologic treatment correlates of childhood severe asthma exacerbation risk: Real world evidence

Pediatr Allergy Immunol. 2025 Dec;36(12):e70247. doi: 10.1111/pai.70247. ABSTRACT BACKGROUND: Biologics have been shown to substantially reduce the risk of severe asthma exacerbations (SAEs) among children …

Impact of Molar Incisor Hypomineralization on Oral Health-Related Quality of Life in Teenagers and Parental Perception: A Meta-Analysis

Int J Dent. 2025 Nov 24;2025:3425899. doi: 10.1155/ijod/3425899. eCollection 2025. ABSTRACT BACKGROUND: The aim of this study was to assess the impact of molar incisor …

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity

Genet Med Open. 2025 Oct 13;3:103465. doi: 10.1016/j.gimo.2025.103465. eCollection 2025. ABSTRACT PURPOSE: Alpha-mannosidosis is an ultrarare lysosomal storage disorder characterized by considerable diagnostic delays due …

Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China

Front Endocrinol (Lausanne). 2025 Nov 17;16:1640108. doi: 10.3389/fendo.2025.1640108. eCollection 2025. ABSTRACT CONTEXT: Congenital hypothyroidism (CH) is a congenital endocrine disorder with diverse clinical presentations. The …

Small patients – Big needs: A material-based approach to develop miniaturised valves for congenital heart diseases

Bioact Mater. 2025 Nov 17;57:430-444. doi: 10.1016/j.bioactmat.2025.11.011. eCollection 2026 Mar. ABSTRACT Paediatric valve replacements cannot be built by simply scaling down bigger-sized valve implants. Innovative …