Clinical utility gene card for: hypophosphatasia - update 2013. (Q38271554)

1 September 2017

Clinical utility gene card for: hypophosphatasia - update 2013. (English)

1 reference

1 September 2017

0 references

5

Martine Le Merrer

0 references

author name string

Etienne Mornet

1

1 reference

1 September 2017

Christine Hofmann

2

1 reference

1 September 2017

Agnès Bloch-Zupan

3

1 reference

1 September 2017

Hermann Girschick

4

1 reference

1 September 2017

7 August 2013

1 reference

European Journal of Human Genetics

1 September 2017

1 reference

1 September 2017

22

1 reference

1 September 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.177

1 September 2017

0 references

cites work

Successful gene therapy in utero for lethal murine hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Physiological role of alkaline phosphatase explored in hypophosphatasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Prosthodontic rehabilitation of hypophosphatasia using dental implants: a review of the literature and two case reports

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Neurosurgical aspects of childhood hypophosphatasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Treatment of adult hypophosphatasia with teriparatide

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Enzyme replacement therapy for murine hypophosphatasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Long-term follow-up of bone mineral density in childhood hypophosphatasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Infantile hypophosphatasia: disappointing results of treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Correlations of genotype and phenotype in hypophosphatasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Hypophosphatasia may lead to bone fragility: don't miss it.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Enzyme-replacement therapy in life-threatening hypophosphatasia.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953904

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

31 August 2018

1 reference

12 December 2020

Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia

1 reference

12 December 2020

A molecular-based estimation of the prevalence of hypophosphatasia in the European population

1 reference

12 December 2020

"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia

1 reference

12 December 2020

Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme

1 reference

12 December 2020

A molecular approach to dominance in hypophosphatasia

1 reference

12 December 2020

Hyperparathyroidism and infantile hypophosphatasia: Effect of prednisone and vitamin K therapy

1 reference

12 December 2020

Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family

1 reference

12 December 2020

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

12 December 2020

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken

1 reference

12 December 2020

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

1 reference

12 December 2020

Adult hypophosphatasia treated with teriparatide

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.177

1 reference

Dimensions Publication ID

1 September 2017

0 references

1 reference

1 September 2017

1 reference