Month: May 2025

Orphanet J Rare Dis. 2025 May 26;20(1):252. doi: 10.1186/s13023-025-03746-9. ABSTRACT BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) type B is a rare lysosomal disorder caused by SMPD1 …

BMC Psychol. 2025 May 26;13(1):561. doi: 10.1186/s40359-025-02739-4. ABSTRACT BACKGROUND: Autism Spectrum Disorder (ASD), a neurodevelopmental condition marked by restricted, repetitive behaviors and social communication difficulties, …

BMC Pediatr. 2025 May 26;25(1):420. doi: 10.1186/s12887-025-05745-y. ABSTRACT BACKGROUND: Chronic illness in children significantly affects their quality of life and that of their families. They …

Orphanet J Rare Dis. 2025 May 26;20(1):249. doi: 10.1186/s13023-025-03743-y. ABSTRACT BACKGROUND: This study aims to compare the clinical presentation of Immune Thrombocytopenia (ITP) in children …

BMC Pediatr. 2025 May 26;25(1):422. doi: 10.1186/s12887-025-05778-3. ABSTRACT We present a case of pediatric lupus nephritis (LN) with double positivity for BAFF and APRIL, highlighting …

Genome Med. 2025 May 26;17(1):61. doi: 10.1186/s13073-025-01491-z. ABSTRACT Many people with rare diseases cannot access personalized therapies because they do not have a confirmed genetic …

Orphanet J Rare Dis. 2025 May 26;20(1):250. doi: 10.1186/s13023-025-03775-4. ABSTRACT Carnitine transport and cycle disorders (CCD) are a group of metabolic disorders characterized by either …

Eur J Med Res. 2025 May 27;30(1):421. doi: 10.1186/s40001-025-02688-z. ABSTRACT BACKGROUND: A pathogenetic factor of ischemic stroke (IS) is oxidative stress. As a rate-limiting enzyme …

Reprod Biol Endocrinol. 2025 May 26;23(1):80. doi: 10.1186/s12958-025-01413-z. ABSTRACT Endocrine disrupting chemicals (EDCs) are ubiquitous in the environment and have been shown to interfere with …