Response to growth hormone in patients with RNPC3 mutations
Graphical Abstract 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.
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer Nature
2018-06-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201809143 |
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| _version_ | 1849331960203182080 |
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| author | Gabriel Á Martos‐Moreno Lourdes Travieso‐Suárez Jesús Pozo‐Román María T Muñoz‐Calvo Julie A Chowen Mikko J Frilander Luis A Pérez‐Jurado Federico G Hawkins Jesús Argente |
| author_facet | Gabriel Á Martos‐Moreno Lourdes Travieso‐Suárez Jesús Pozo‐Román María T Muñoz‐Calvo Julie A Chowen Mikko J Frilander Luis A Pérez‐Jurado Federico G Hawkins Jesús Argente |
| author_sort | Gabriel Á Martos‐Moreno |
| collection | DOAJ |
| description | Graphical Abstract 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. |
| format | Article |
| id | doaj-art-3f7e933f66b94e9b9afff55bef9f5059 |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2018-06-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-3f7e933f66b94e9b9afff55bef9f50592025-08-20T03:46:21ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842018-06-011071410.15252/emmm.201809143Response to growth hormone in patients with RNPC3 mutationsGabriel Á Martos‐Moreno0Lourdes Travieso‐Suárez1Jesús Pozo‐Román2María T Muñoz‐Calvo3Julie A Chowen4Mikko J Frilander5Luis A Pérez‐Jurado6Federico G Hawkins7Jesús Argente8Department of Endocrinology, Hospital Infantil Universitario Niño JesúsDepartment of Endocrinology, Hospital Infantil Universitario Niño JesúsDepartment of Endocrinology, Hospital Infantil Universitario Niño JesúsDepartment of Endocrinology, Hospital Infantil Universitario Niño JesúsDepartment of Endocrinology, Hospital Infantil Universitario Niño JesúsInstitute of Biotechnology, University of HelsinkiGenetics Unit, Universitat Pompeu FabraDiabetes and Bone Research Center, Institute i + 12, Complutense University and Hospital 12 de OctubreDepartment of Endocrinology, Hospital Infantil Universitario Niño JesúsGraphical Abstract 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.https://doi.org/10.15252/emmm.201809143 |
| spellingShingle | Gabriel Á Martos‐Moreno Lourdes Travieso‐Suárez Jesús Pozo‐Román María T Muñoz‐Calvo Julie A Chowen Mikko J Frilander Luis A Pérez‐Jurado Federico G Hawkins Jesús Argente Response to growth hormone in patients with RNPC3 mutations EMBO Molecular Medicine |
| title | Response to growth hormone in patients with RNPC3 mutations |
| title_full | Response to growth hormone in patients with RNPC3 mutations |
| title_fullStr | Response to growth hormone in patients with RNPC3 mutations |
| title_full_unstemmed | Response to growth hormone in patients with RNPC3 mutations |
| title_short | Response to growth hormone in patients with RNPC3 mutations |
| title_sort | response to growth hormone in patients with rnpc3 mutations |
| url | https://doi.org/10.15252/emmm.201809143 |
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