(Q35643100)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

review article

1 reference

title

Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

3

Scriver CR

1 reference

PubMed publication ID

9 August 2017

Treacy E

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Childs B

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Scriver CR

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 February 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

359-367

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

Gene therapy for cystic fibrosis

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

The role of neurogenetics in Gaucher disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Inborn errors of urea synthesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Treatment of inherited disease: realized and potential.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

The effect of Mendelian disease on human health. II: Response to treatment

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

The effect of Mendelian disease on human health: a measurement.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

The application of bone marrow transplantation to the treatment of genetic diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Cognitive development in children with inborn errors of urea synthesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Changes in life-style after liver transplantation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

27 July 2018

Biotechnology regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Liver transplantation for type IV glycogen storage disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Bone marrow transplantation for the treatment of genetic diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Treatment of inherited metabolic disorders by liver transplantation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Prospective treatment of urea cycle disorders.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Bone marrow transplants in genetic diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Orthotopic liver transplantation in liver-based metabolic disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Update of pediatric liver transplantation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Long-term outcome in 134 patients with galactosaemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Human gene therapy comes of age.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801128

Transplantation--a new dimension for paediatrics

15 November 2018

1 reference

12 December 2020

Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies

1 reference

12 December 2020

Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7847368%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

7847368

1 reference