(Q33597081)

28 July 2017

title

Sanfilippo syndrome type D in two adolescent sisters (English)

1 reference

28 July 2017

1 reference

1 reference

7

J J Hopwood

1 reference

28 July 2017

L Siciliano

1

1 reference

28 July 2017

A Fiumara

2

1 reference

28 July 2017

L Pavone

3

1 reference

28 July 2017

C Freeman

4

1 reference

28 July 2017

D Robertson

5

1 reference

28 July 2017

C P Morris

6

1 reference

28 July 2017

P Di Natale

8

1 reference

28 July 2017

S Musumeci

9

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28 July 2017

A L Horwitz

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1991

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

28

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28 July 2017

issue

6

1 reference

28 July 2017

page(s)

402-405

1 reference

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016906

Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016906

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016906

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016906

Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016906

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016906

Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1908010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sanfilippo syndrome type D

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1908010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1908010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.6.402

1 reference

28 July 2017

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28 July 2017

1 reference