Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Item
http://www.wikidata.org/entity/Q33523889
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Cognitive and psychological functioning in Fabry disease.Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.Glycosylation and other PTMs alterations in neurodegenerative diseases: Current status and future role in neurotrauma.Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuriaHypophosphatemia and growth.Driving with a neurodegenerative disorder: an overview of the current literature.DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotypeProcessing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports.
P2860

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Item
http://www.wikidata.org/entity/Q33523889
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@ast
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@en
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@nl
type
label
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@ast
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@en
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@nl
prefLabel
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@ast
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@en
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P921
P932
P356
P1433
P1476
Genetic and clinical peculiari ...... hypercalciuria: a case report.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P921
P932