Suchergebnisse - "PHEX Phosphate Regulating Neutral Endopeptidase"

PubPharm (60)

1

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

2

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

3

Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets : a case report

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

von Aiello, F. | Pasquali, D. | Baronio, F. | +11

4

A New de novo Mosaic Mutation of PHEX Gene : A Case Report of a Boy with Hypophosphatemic Rickets

enthalten in: Endocrine, metabolic & immune disorders drug targets | 2023

von Terracciano, A. | De Bernardi, M. | Novizio, R. | +7

5

Progressive paravertebral ligament ossification and pseudoarthrosis in the thoracic spine due to loss of function of the PHEX gene in a patient with X-linked hypophosphatemic rickets

enthalten in: Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association | 2023

von Yahara, Y. | Niimi, H. | Sugie, N. | +6

6

A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

enthalten in: Calcified tissue international | 2022

von Ma, X. | Pang, Q. | Zhang, Q. | +5

7

X-linked hypophosphatemic rickets : Orthodontic considerations and management. A case report

enthalten in: Journal of orthodontics | 2022

von Gibson, C. | Mubeen, S. | Evans, R.

8

Genetic analysis combined with 3D-printing assistant surgery in diagnosis and treatment for an X-linked hypophosphatemia patient

enthalten in: Journal of clinical laboratory analysis | 2022

von Jin, J. | Zhang, L. | Guo, S. | +4

9

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets

enthalten in: Calcified tissue international | 2022

von Lin, Y. | Zhang, W. | Huang, X. | +6

10

X-linked hypophosphataemic rickets : Report of a novel PHEX mutation and cinacalcet as adjuvant therapy in the mineral metabolism control

enthalten in: Modern rheumatology case reports | 2022

von Cavaco, D. | Amaro, P. | Simões-Pereira, J. | +1

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