Inherited forms of rickets and osteomalacia (Q39469545)

12 September 2017

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title

Inherited forms of rickets and osteomalacia (English)

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12 September 2017

1

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12 September 2017

J L O'Riordan

2

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12 September 2017

1 February 1988

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Bailliere's clinical endocrinology and metabolism

12 September 2017

1 reference

12 September 2017

2

1 reference

12 September 2017

157-191

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12 September 2017

1

1 reference

Oculo-cerebro-renal syndrome. A review

12 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Progress in endocrinology and metabolism. Vitamin D: current concepts

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Fanconi syndrome with hypouricemia in an adult: family study

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The adult presenting idiopathic Fanconi syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Maleic acid-induced impaired conversion of 25(OH)D3 to 1,25(OH)2D3: Implications for Fanconi's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Chromosome maps of man and mouse II

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Supranormal 25-hydroxyvitamin D and subnormal 1,25-dihydroxyvitamin D: their role in X-linked hypophosphatemic rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The nature of the renal lesion in the Fanconi syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Evidence for an Intrinsic Renal Tubular Defect in Mice with Genetic Hypophosphatemic Rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Chronic acidosis with metabolic bone disease. Effect of alkali on bone morphology and vitamin D metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Vitamin D Metabolism and Function

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Vitamin D dependency: Replacement therapy with calcitriol

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The genetic linkage map of the human X chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Vitamin D-dependent rickets type I in pigs

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The diagnosis and management of the various types of rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Adult-Onset Vitamin D-Resistant Osteomalacia with the Unresponsiveness to Parathyroid Hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Micropuncture study of renal phosphorus transport in hypophosphatemic vitamin D resistant rickets mice

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Bone Response to Phosphate Salts, Ergocalciferol, and Calcitriol in Hypophosphatemic Vitamin D-Resistant Rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Familial hypophosphatemia: an inherited demand for increased vitamin D?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Vitamin D metabolism: the role of kidney tissue.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

A cytological map of the human X chromosome--evidence for non-random recombination

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Basic and clinical concepts related to vitamin D metabolism and action (first of two parts).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Subcellular fractionation of dystrophin to the triads of skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

25-hydroxycholecalciferol to 1,25-dihydroxycholecalciferol: conversion impaired by systemic metabolic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

End-organ resistance to 1,25-dihydroxycholecalciferol

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Molecular cloning of complementary DNA encoding the avian receptor for vitamin D.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Healing of rickets with phosphate supplementation in the hypophosphatemic male mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

A Familial Syndrome of Decrease in Sensitivity to 1,25-Dihydroxyvitamin D*

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Audiologic findings in young patients with hypophosphatemic bone disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Osteomalacia and altered magnesium metabolism in the X-linked hypophosphatemic mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Lack of effect of vitamin D and its metabolites on intestinal phosphate transport in familial hypophosphatemia of mice

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Steroid hormone action in eucaryotic cells

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The oculo-cerebro-renal syndrome of Lowe in four generations of one family

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Calcification of entheses associated with X-linked hypophosphatemic osteomalacia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1α-hydroxyvitamin D3

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Rickets with alopecia: An inborn error of vitaminD metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Severe familial hypophosphatemic rickets. Normal growth following early treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Hypophosphatemic nonrachitic bone disease: An entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Patterns of matrix vesicle calcification in osteomalacia of Gyro mice

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

A Familial Tubular Absorption Defect of Glucose and Amino Acids.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Exaggerated phosphaturic response to circulating parathyroid hormone in patients with familial X-linked hypophosphatemic rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Hypophosphataemic osteomalacia and myopathy: studies with nuclear magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Microradiographic and polarized-light study of dental tissues in vitamin D—resistant rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Pseudo Vitamin D Deficiency Rickets: Report of Four New Cases

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

The control of 25-hydroxyvitamin D metabolism by inorganic phosphorus.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: Evidence for a defect in the brush border membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Bridging markers defining the map position of X linked hypophosphataemic rickets.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Dentofacial Development in Children with Vitamin D-Resistant Rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Sensorineural deafness associated with recessive hypophosphataemic rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Toward better therapy for resistant rickets.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

Construction of linkage maps with DNA markers for human chromosomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2888%2980012-0

7 January 2021

10.1016/S0950-351X(88)80012-0

Identifiers

DOI

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12 September 2017

1 reference

PubMed ID

2900631