PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 13 results sorted by: Most RecentSee all results in PubMed (13)
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
Front Immunol. 2022. PMID: 35464479 Free PMC article.
Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
J Pediatr Endocrinol Metab. 2022. PMID: 35405042
Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Ital J Pediatr. 2020. PMID: 33099310 Free PMC article.
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
Endocr J. 2020. PMID: 31708526 Free article.
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Eur J Hum Genet. 2019. PMID: 30573803 Free PMC article.