Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Մատենագիտական մանրամասներ
Հիմնական հեղինակներ:	Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T
Ձևաչափ:	Journal article
Լեզու:	English
Հրապարակվել է:	2012

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Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
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Bridging markers defining the map position of X linked hypophosphataemic rickets.
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Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults
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Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
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X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
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Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management
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Հրապարակվել է: (2021-01-01)

Incidence of ossification of the spinal ligaments in acromegaly patients
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Հրապարակվել է: (2022-12-01)

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament
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Հրապարակվել է: (2022-10-01)

Selective Angiography to Detect Anterior Spinal Artery Stenosis in Thoracic Ossification of the Posterior Longitudinal Ligament
‌: Go Yoshida, և այլն
Հրապարակվել է: (2022-06-01)

Progression of Spinal Ligament Ossification in Patients with Thoracic Myelopathy
‌: Jiliang Zhai, և այլն
Հրապարակվել է: (2022-09-01)

The effect of 1,25-dihydroxycholecalciferol on renal tubular reabsorption of phosphate, intestinal absorption of calcium and bone histology in hypophosphataemic renal tubular rickets.
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Effects of a diphosphonate (disodium etidronate: EHDP) on phosphate metabolism in Paget's disease of bone, primary hyperparathyroidism and type I hypophosphataemic rickets.
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Risk factors of dysphagia in patients with ossification of the anterior longitudinal ligament
‌: Hirosuke Nishimura, և այլն
Հրապարակվել է: (2020-10-01)

Lumbar ossification of the ligamentum flavum reflects a strong ossification tendency of the entire spinal ligament
‌: Kazuha Nakabachi, և այլն
Հրապարակվել է: (2023-01-01)

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
‌: Jie Liu, և այլն
Հրապարակվել է: (2023-04-01)

Strong relationship between dyslipidemia and the ectopic ossification of the spinal ligaments
‌: Tsutomu Endo, և այլն
Հրապարակվել է: (2022-12-01)

Autophagy in spinal ligament fibroblasts: evidence and possible implications for ossification of the posterior longitudinal ligament
‌: Yuehua Yang, և այլն
Հրապարակվել է: (2020-10-01)

To Study the Incidence of Heterotopic Ossification After Anterior Cruciate Ligament Reconstruction
‌: BHASKARA BHANDARY, և այլն
Հրապարակվել է: (2013-05-01)

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
‌: Ana Rita Couto, և այլն
Հրապարակվել է: (2022-10-01)

Biomarker Research Approach to the Pathogenesis of Ossification of the Spinal Ligament: A Review
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Introduction to the Essence of Clinical Practice Guidelines for Ossification of Spinal Ligaments, 2019
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De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
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Ossification of the Anterior Longitudinal Ligament with Dysphagia as the First Symptom: Rehabilitation of Two Cases
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Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review
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Direct anterior decompression in patients with ossification of the posterior longitudinal ligament significantly relieves short-segment spinal cord high signal
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Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
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Complete ossification of stylohyoid ligament
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Anterior direct decompression significantly relieves spinal cord high signal in patients with ossification of the posterior longitudinal ligament: a case-control study
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Dysphagia Turns Out to Be Ossification of the Anterior Longitudinal Ligament of The Cervical Spine: A Case Report
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Surgical results and prognostic factors of anterior cervical corpectomy and fusion for ossification of the posterior longitudinal ligament.
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Predicting the impact of PHEX, FGF23 and DMP1 gene variants found in Malaysian Malay patients with Hypophosphataemic Rickets through in silico analysis of protein function and mRNA secondary structure
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Հրապարակվել է: (2019)

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

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