Suchergebnisse - "PHEX Phosphate Regulating Neutral Endopeptidase"

PubPharm (409)

1

Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3'-UTR change as a possible cause

enthalten in: Bone | 2024

von Sawatsubashi, S. | Takashi, Y. | Endo, I. | +4

2

Complex intrinsic abnormalities in osteoblast lineage cells of X-linked hypophosphatemia : Analysis of human iPS cell models generated by CRISPR/Cas9-mediated gene ablation

enthalten in: Bone | 2024

von Nakanishi, T. | Yamazaki, M. | Tachikawa, K. | +4

3

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients

enthalten in: In vivo (Athens, Greece) | 2024

von Su, P. | Yu, J. | Wu, Y. | +20

4

X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells

enthalten in: Bone | 2023

von Grimbly, C. | Ludwig, K. | Wu, Z. | +5

5

XLH Matters 2022 : Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)

enthalten in: Orphanet journal of rare diseases | 2023

von Seefried, L. | Alzahrani, A. | Arango Sancho, P. | +12

6

Adult height improved over decades in patients with X-linked hypophosphatemia : a cohort study

enthalten in: European journal of endocrinology | 2023

von Boros, E. | Ertl, D. | Berkenou, J. | +16

7

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

enthalten in: Calcified tissue international | 2023

von Ma, J. | Zhang, Y. | Ding, X. | +8

8

Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets : report of three female cases from two pedigrees

enthalten in: Journal of pediatric endocrinology & metabolism : JPEM | 2023

von Nabeshima, Y. | Sato, T. | Zukeran, H. | +8

9

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

enthalten in: Bone | 2023

von Soto Barros, J. | Sanchez, S. | Cabral, K. | +5

10

The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets : a case report and an analysis of the gene mutation dosage effect in a rat model

enthalten in: Frontiers in endocrinology | 2023

von Chen, X. | Cai, C. | Lun, S. | +10

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