Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications
S Rafaelsen, S Johansson, H Ræder… - European journal of …, 2016 - academic.oup.com
Objective Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized
by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the …
by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the …
[HTML][HTML] Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets
SS Li, JM Gu, WJ Yu, JW He… - … journal of molecular …, 2016 - spandidos-publications.com
Inactivating mutations in phosphate-regulating gene with homologies to endopeptidase on
the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic …
the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic …
[HTML][HTML] A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets
C Weng, J Chen, L Sun, ZW Zhou, X Feng… - Journal of human …, 2016 - nature.com
X-linked dominant hypophosphatemic rickets (XLHR), is characterized mainly by renal
phosphate wasting with hypophosphatemia, short stature and abnormal bone …
phosphate wasting with hypophosphatemia, short stature and abnormal bone …
De novo mutation of PHEX in a type 1 diabetes patient
C Fang, H Li, X Li, W Xiao, Y Huang, W Cai… - Journal of Pediatric …, 2016 - degruyter.com
A new missense mutation on the X chromosome (PHEX) at exon 4 (c. 442C> T) in a 4-
generation Chinese Han pedigree is reported. The proband and four family members were …
generation Chinese Han pedigree is reported. The proband and four family members were …
[PDF][PDF] Клинико-гормональные и молекулярно-генетические характеристики рахитоподобных заболеваний
КС Куликова - Дисс. на соискание ученой степени кандидата …, 2016 - endocrincentr.ru
Рахитоподобные заболевания (РПЗ)-это гетерогенная группа заболеваний
наследственной природы, в патогенезе которых могут быть задействованы изменения …
наследственной природы, в патогенезе которых могут быть задействованы изменения …
[HTML][HTML] Клинические, гормонально-биохимические и молекулярно-генетические характеристики у 75 пациентов с гипофосфатемическим рахитом
КС Куликова, АА Колодкина, ЕВ Васильев… - Проблемы …, 2016 - cyberleninka.ru
Цель исследования выявление генетической причины гипофосфатемического рахита
(ГФР), а также оценка клинических, гормонально-биохимических характеристик этого …
(ГФР), а также оценка клинических, гормонально-биохимических характеристик этого …
[HTML][HTML] Clinical, hormonal, biochemical and genetic characteristics of 75 patients with hypophosphatemic rickets
KS Kulikova, AA Kolodkina, EV Vasiliev… - Problems of …, 2016 - probl-endojournals.ru
Aim—the present research was aimed at identifying the genetic causes for hr in patients, as
well as evaluating the clinical, hormonal and biochemical characteristics of the disease in …
well as evaluating the clinical, hormonal and biochemical characteristics of the disease in …
Hereditary phosphate balance disorders in Norwegian children
SH Rafaelsen - 2016 - bora.uib.no
Background: Hereditary hypophosphatemia (HH) is a group of diseases characterized by
monogenic hypophosphatemia due to reduced tubular maximum reabsorption of phosphate …
monogenic hypophosphatemia due to reduced tubular maximum reabsorption of phosphate …