(Q41366538)

30 September 2017

title

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

1 reference

25 April 2023

1 reference

1 reference

25 April 2023

1

P. H. Byers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A414988

25 April 2023

3

J. G. Hall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A414988

25 April 2023

author name string

K. A. Holbrook

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A414988

25 April 2023

P. Bornstein

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A414988

25 April 2023

J. W. Chandler

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A414988

25 April 2023

language of work or name

1 reference

1 January 1978

1 reference

30 September 2017

19 January 1978

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=414988

full work available at URL

25 April 2023

http://link.springer.com/content/pdf/10.1007/BF00272296.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00272296/fulltext.html

25 April 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00272296

25 April 2023

1 reference

25 April 2023

1 reference

30 September 2017

volume

40

1 reference

30 September 2017

issue

2

1 reference

30 September 2017

page(s)

157-169

1 reference

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

30 September 2017

cites work

1 reference

12 December 2020

Improvements in epoxy resin embedding methods

1 reference

12 December 2020

Binding and precipitation of soluble collagens by chick embryo cartilage proteoglycan

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Collagen cross-linking. Effect of D-penicillamine on cross-linking in vitro

1 reference

12 December 2020

The tridimensional structure of native collagenous fibrils, their proteinaceous filaments

1 reference

12 December 2020

Collagen structure: Evidence for a helical organization of the collagen fibril

1 reference

12 December 2020

Chemical and enzymic studies of a family with skeletal abnormalities associated with mental retardation

1 reference

12 December 2020

Dermatan sulfate-protein: isolation from and interaction with collagen

1 reference

12 December 2020

Mammalian X-chromosome inactivation

1 reference

12 December 2020

Cross-linking of collagen and elastin. Properties of lysyl oxidase

1 reference

12 December 2020

Reducible Crosslinks in Hydroxylysine-Deficient Collagens of a Heritable Disorder of Connective Tissue

1 reference

12 December 2020

Spondyloepiphyseal Dysplasia Congenita

1 reference

12 December 2020

Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia

1 reference

12 December 2020

1 reference

12 December 2020

The mucopolysaccharidoses (a review).

1 reference

12 December 2020

A hereditary dysplasia of collagen tissues in sheep.

1 reference

12 December 2020

Embedding in epoxy resins for ultrathin sectioning in electron microscopy

1 reference

12 December 2020

Cross-Linking of Collagen

1 reference

12 December 2020

Ultrastructure of benign peripheral nerve sheath tumors.

1 reference

12 December 2020

The use of lead citrate at high pH as an electron-opaque stain in electron microscopy

1 reference

12 December 2020

Biochemical characteristics and biological significance of the genetically-distinct collagens

1 reference

12 December 2020

Defects In The Biochemistry Of Collagen In Diseases Of Connective Tissue

1 reference

12 December 2020

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1 reference

12 December 2020

Distinctive spondyloepiphyseal dysplasia in father and three children

1 reference

12 December 2020

Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves

1 reference

12 December 2020

FIBROUS LONG-SPACING COLLAGEN IN TUMORS OF THE NERVOUS SYSTEM

1 reference

12 December 2020

The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease).

1 reference

12 December 2020

Helical structure of human native collagen

1 reference

12 December 2020

A Heritable Disorder of Connective Tissue

1 reference

12 December 2020

The Biosynthesis of Collagen

1 reference

12 December 2020

Unusual multiple epiphyseal dysplasias.

1 reference

12 December 2020

An X-linked form of cutis laxa due to deficiency of lysyl oxidase.

1 reference

12 December 2020

Spondyloepiphyseal dysplasia

1 reference

12 December 2020

A collagenous tissue dysplasia of calves

1 reference

12 December 2020

NH2-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen

1 reference

12 December 2020

Birth defects original article series

7

12

293

P. H. Byers

1976

1 reference

Birth defects original article series

25 April 2023

19

10

391

K. Lie

1974

1 reference

Birth defects original article series

25 April 2023

20

10

391

S. O. Lie

1974

1 reference

25 April 2023

Identifiers

DOI

10.1007/BF00272296

1 reference

Dimensions Publication ID

30 September 2017

1050136819

0 references

1 reference