Response to growth hormone in patients with RNPC3 mutations

被引：5

作者：

Martos-Moreno, Gabriel A. ^{[1
,2
,3
,4
]}

Travieso-Suarez, Lourdes ^{[1
,2
,3
]}

Pozo-Roman, Jesus ^{[1
,2
,3
,4
]}

Munoz-Calvo, Maria T. ^{[1
,2
,3
,4
]}

Chowen, Julie A. ^{[1
,2
,3
,4
,5
]}

Frilander, Mikko J. ^{[6
]}

Perez-Jurado, Luis A. ^{[7
,8
,9
,10
,11
]}

Hawkins, Federico G. ^{[12
]}

Argente, Jesus ^{[1
,2
,3
,4
,5
]}

机构：

[1] Hosp Infantil Univ Nino Jesus, Dept Endocrinol, Madrid, Spain

[2] Inst Invest La Princesa, Madrid, Spain

[3] Univ Autonoma Madrid, Dept Pediat, Madrid, Spain

[4] Inst Salud Carlos III, CIBER Fisiopatol Obesidad & Nutr CIBEROBN, Madrid, Spain

[5] CSIC, CEIUAM, IMDEA Food Inst, Madrid, Spain

[6] Univ Helsinki, Inst Biotechnol, Helsinki, Finland

[7] Univ Pompeu Fabra, Genet Unit, Barcelona, Spain

[8] Inst Salud Carlos III, Hosp del Mar, Res Inst IMIM, Barcelona, Spain

[9] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain

[10] Womens & Childrens Hosp, SA Clin Genet, Adelaide, SA, Australia

[11] Univ Adelaide, Adelaide, SA, Australia

[12] Complutense Univ & Hosp 12 Octubre, Inst i 12, Diabet & Bone Res Ctr, Madrid, Spain

来源：

EMBO MOLECULAR MEDICINE | 2018年 / 10卷 / 07期

关键词：

DEFICIENCY; CHILDREN; DENSITY;

D O I：

10.15252/emmm.201809143

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

After 6 years of Growth Hormone (GH) therapy, three patients with a defect in minor spliceosome mRNA processing leading to an incompletely understood GH deficit present with excellent auxological response and improvement in the bone mineral density and trabecular bone structure. [graphic not available: see fulltext]

引用

页数：4

共 9 条

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