(Q41015480)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

review article

1 reference

title

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

main subject

mucopolysaccharidosis I

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Lorne Clarke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Charles Phillip Morris

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

Bunge S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Gal A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Hopwood JJ

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

288-302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8680403%20AND%20SRC:MED&resulttype=core&format=json

Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies

16 October 2019

cites work

1 reference

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Genetic organization, sequence and biochemical characterization of recombinant beta-xylosidase from Thermoanaerobacterium saccharolyticum strain B6A-RI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Suggestions for "safe" residue substitutions in site-directed mutagenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Murine alpha-L-iduronidase: cDNA isolation and expression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Diagnosis and prevention of lysosomal storage diseases in Russia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

An update on the frequency of mucopolysaccharide syndromes in British Columbia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Lysosomal storage diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Enzyme replacement in a canine model of Hurler syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Pseudodeficiency of alpha-iduronidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

A new method for predicting signal sequence cleavage sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021

Scheie and Hurler syndromes: apparent identity of the biochemical defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060403

7 January 2021