(Q47101719)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

case report

0 references

title

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

enzyme replacement therapy

3 April 2020

main subject

hypophosphatasia

0 references

0 references

author

Cheryl Rockman-Greenberg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Martin Offringa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Gregory Costain

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Aideen M Moore

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Lauren Munroe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Alison Williams

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Randi Zlotnik Shaul

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Peter Kannu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

publication date

7 November 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism Reports

3 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

22-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

3 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

The genetic predisposition to bronchopulmonary dysplasia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Asfotase Alfa in Perinatal/Infantile-Onset and Juvenile-Onset Hypophosphatasia: A Guide to Its Use in the USA.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Control mechanisms of lung alveolar development and their disorders in bronchopulmonary dysplasia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Correlations of genotype and phenotype in hypophosphatasia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Clinical and genetic aspects of hypophosphatasia in Japanese patients.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Enzyme-replacement therapy in life-threatening hypophosphatasia.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Can we afford it?: ethical consideration of expensive drug treatment for neonates and infants

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5681336

Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy

1 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2017.10.006

10.1016/J.YMGMR.2017.10.006

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159075%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference