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Year | Number of Results |
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2017 | 1 |
2022 | 1 |
2024 | 1 |
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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Am J Med Genet A. 2024 Jun;194(6):e63533. doi: 10.1002/ajmg.a.63533. Epub 2024 Jan 17.
Am J Med Genet A. 2024.
PMID: 38234231
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. ...
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type …
Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
Adiyaman SC, V Schnurbein J, De Laffolie J, Hahn A, Siebert R, Wabitsch M, Kamrath C.
Adiyaman SC, et al.
J Pediatr Endocrinol Metab. 2022 Apr 11;35(7):946-952. doi: 10.1515/jpem-2022-0022. Print 2022 Jul 26.
J Pediatr Endocrinol Metab. 2022.
PMID: 35405042
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Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B.
Akinci G, et al.
Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1.
Neuromuscul Disord. 2017.
PMID: 28754454
All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in congenital generalized lipodystrophy type 4 (2/2) and familial partial lipodystrophy type 2 (2/17). Atlantoa …
All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in …
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