Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Autor: Ellen R. Elias, Gerald Salen, Anne D. Hurley, M B Irons, G.S. Tint

Publikováno v: American Journal of Medical Genetics. 68:305-310

We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-"Smith-Lemli-Opitz" syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a6fa032e10feac2e7292edd5a7d0322f
https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<305::aid-ajmg11>3.0.co

Prenatal diagnosis of Smith-Lemli-Opitz syndrome

Autor: M B, Irons, G S, Tint

Publikováno v: Prenatal diagnosis. 18(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::46cb1730b12673d49efcb9dad0314c88
https://pubmed.ncbi.nlm.nih.gov/9602484

Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Autor: M B, Irons, D W, Bianchi, R L, Geggel, G R, Marx, I, Bhan

Publikováno v: American journal of medical genetics. 66(1)

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9ad2641f31bcf0e112582045ed64b1ec
https://pubmed.ncbi.nlm.nih.gov/8957515

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.

Autor: Selvaraman A; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Rahhal S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Bianconi S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Furnary T; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 13, pp. e63875. Date of Electronic Publication: 2024 Sep 13.

Long-term clinical and patient-reported outcomes in free flap reconstruction of the weight-bearing heel pad and non-weight-bearing Achilles tendon regions.

Autor: Grauberger JN; Mayo Clinic Alix School of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Gibreel WO; Division of Plastic Surgery, Mayo Clinic, Rochester, Minnesota, USA., Moran SL; Division of Plastic Surgery, Mayo Clinic, Rochester, Minnesota, USA., Carlsen BT; Division of Plastic Surgery, Mayo Clinic, Rochester, Minnesota, USA., Bakri K; Division of Plastic Surgery, Mayo Clinic, Rochester, Minnesota, USA.

Publikováno v: Microsurgery [Microsurgery] 2020 Nov; Vol. 40 (8), pp. 835-845. Date of Electronic Publication: 2020 Oct 02.