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Browsing Tag

Pharmacology/Toxicology

9 posts
GGenetics
Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases
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Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases

  • August 29, 2025
Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33–48. CAS  PubMed  Google Scholar  Carey IM,…
GGenetics
Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases
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Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases

  • August 26, 2025
The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
GGenetics
Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years | Orphanet Journal of Rare Diseases
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Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years | Orphanet Journal of Rare Diseases

  • August 17, 2025
Literature search and study selection An initial search using the search terms related to the operative technique yielded…
SScience
From gene hunter to drug hunter
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From gene hunter to drug hunter

  • August 15, 2025
Howard Chang wasn’t looking for a change from his job at Stanford, where he worked as both a…
GGenetics
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
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Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases

  • August 8, 2025
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…
GGenetics
Clinical features and rare complications in 132 patients with hepatic glycogenosis | Orphanet Journal of Rare Diseases
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Clinical features and rare complications in 132 patients with hepatic glycogenosis | Orphanet Journal of Rare Diseases

  • August 5, 2025
The overall incidence of GSDs is approximately 1 case per 20,000–43,000 live births, and 80% of hepatic GSDs…
GGenetics
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
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Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases

  • August 2, 2025
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
GGenetics
Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases
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Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases

  • July 29, 2025
Clinical findings The patient is the second child of healthy, non-consanguineous parents, who first presented at the age…
AArtificial intelligence
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases
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Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases

  • July 16, 2025
Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided information…
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