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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

1 citations, June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

December 2024 in “Livers”

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

research How to Diagnose a Lipodystrophy Syndrome

53 citations, June 2012 in “Annales d'Endocrinologie”

The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.

research Where Have the Periods Gone? The Evaluation and Management of Functional Hypothalamic Amenorrhea

18 citations, January 2020 in “Journal of Clinical Research in Pediatric Endocrinology”

The document concludes that Functional Hypothalamic Amenorrhea should be carefully diagnosed and managed to prevent health complications, using lifestyle changes and specific medications.

2014 Female Athlete Triad Coalition Consensus Statement on Treatment and Return to Play of the Female Athlete Triad: 1st International Conference Held in San Francisco, California, May 2012 and 2nd International Conference Held in Indianapolis, Indiana, May 2013

research 2014 Female Athlete Triad Coalition Consensus Statement on Treatment and Return to Play of the Female Athlete Triad: 1st International Conference Held in San Francisco, California, May 2012 and 2nd International Conference Held in Indianapolis, Indiana, May 2013

400 citations, January 2014 in “British Journal of Sports Medicine”

The consensus provided guidelines for treating the Female Athlete Triad and a system to decide when athletes can return to sports.

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