(Q39725051)

English

Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin-6-sulfate synthesis

scientific article published on January 1, 1978

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin-6-sulfate synthesis (English)

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

mucopolysaccharide

1 reference

based on heuristic

inferred from title

recessive genes

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A122434

4 December 2022

author name string

Toledo SP

1

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Mourão PA

2

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Lamego C

3

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Alves CA

4

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Dietrich CP

5

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Assis LM

6

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Mattar E

7

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=122434

4 December 2022

publication date

1 January 1978

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320020408

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320020408

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

385-395

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).

4

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Normal values of the vertebral body and intervertebral disk index during growth

5

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome)

8

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Urinary mucopolysaccharides in acheiropodia

9

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Chondroitin sulfate isomers in normal human urine

10

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Cytodifferentiation and proteoglycan biosynthesis

11

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Acid mucopolysaccharide patterns in aging human cartilage

12

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

13

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease

14

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT

16

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Platyspondyly, polyarticular osteoarthritis, and absent beta-2-globulin in two brothers

24

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency

25

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

OSTEOCHONDRODYSTROPHIA DEFORMANS WITH MUCOPOLYSACCHARIDOSIS.

26

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils

27

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Archives francaises de pediatrie

29

32

695

author name string

Fontaine

publication date

1948

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

The distributions of chondroitin sulfates in articular and growth cartilages of human bones

36

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

37

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency

39

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Bone dysplasias, including Morquio's syndrome, studied in skin fibroblast cultures.

40

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Glycosaminoglycans of iliac crest cartilage in spondyloepiphyseal dysplasia congenita

41

1 reference

10.1002/AJMG.1320020408

https://api.crossref.org/works/10.1002/AJMG.1320020408

4 December 2022

Identifiers

10.1002/AJMG.1320020408

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

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