Autosomal recessive osteopetrosis: diagnosis, management, and outcome (Q34065111)

30 July 2017

1 reference

title

Autosomal recessive osteopetrosis: diagnosis, management, and outcome (English)

1 reference

30 July 2017

Wilson CJ

1

1 reference

PubMed ID

11040159

30 July 2017

Vellodi A

series ordinal

2

1 reference

PubMed ID

11040159

30 July 2017

language of work or name

English

0 references

publication date

1 November 2000

1 reference

Archives of Disease in Childhood

30 July 2017

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30 July 2017

83

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30 July 2017

5

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30 July 2017

449-452

1 reference

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to investigating pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Importance of neurological assessment before bone marrow transplantation for osteopetrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Malignant infantile osteopetrosis: otolaryngological complications and management.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Developmental spectrum of children with congenital osteopetrosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Recent developments in the understanding of the pathophysiology of osteopetrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Long-term treatment of osteopetrosis with recombinant human interferon gamma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Association of Infantile Neuroaxonal Dystrophy and Osteopetrosis: A Rare Autosomal Recessive Disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Treatment of congenital osteopetrosis with high-dose calcitriol.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

The association of infantile osteopetrosis and neuronal storage disease in two brothers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Neutrophil defect associated with malignant infantile osteopetrosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Infantile osteopetrosis: a case report on dental findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Recombinant human interferon gamma therapy for osteopetrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Host defense in infantile osteopetrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Bone marrow scintigraphy with technetium-99m anti-NCA-95 to monitor therapy in malignant osteopetrosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718540

Osteopetrosis in children: a report of 26 cases

28 October 2018

1 reference

12 December 2020

Infantile osteopetrosis and neuronal storage disease

1 reference

12 December 2020

Osteopetrosis with bilateral facial nerve palsy

1 reference

12 December 2020

Optic nerve decompression in osteopetrosis

1 reference

12 December 2020

Optic nerve decompression for osteopetrosis in early childhood

1 reference

12 December 2020

Morphologic features of bone in human osteopetrosis

1 reference

12 December 2020

Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium

1 reference

12 December 2020

Failure of calcitriol treatment in a patient with malignant osteopetrosis

1 reference

12 December 2020

Facial nerve dysfunction in osteopetrosis

1 reference

12 December 2020

Autosomal recessive osteopetrosis in Arab children

1 reference

12 December 2020

Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group

1 reference

12 December 2020

Megadose methylprednisolone treatment for malignant osteopetrosis

1 reference

12 December 2020

Managing osteopetrosis in children: a nutrition challenge

1 reference

12 December 2020

Early VEP and ERG Evidence of Visual Dysfunction in Autosomal Recessive Osteopetrosis

1 reference

12 December 2020

Orthopedic management of osteopetrosis: results of a survey and review of the literature

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.83.5.449

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

PubMed ID

11040159