(Q34216367)

31 July 2017

title

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature (English)

1 reference

Infantile systemic hyalinosis

31 July 2017

1 reference

1 reference

Stucki U

1

1 reference

31 July 2017

Spycher MA

2

1 reference

31 July 2017

Eich G

3

1 reference

31 July 2017

Rossi A

4

1 reference

31 July 2017

Sacher P

5

1 reference

31 July 2017

Steinmann B

6

1 reference

31 July 2017

Superti-Furga A

7

1 reference

31 July 2017

publication date

1 April 2001

1 reference

American Journal of Medical Genetics Part A

31 July 2017

published in

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31 July 2017

volume

100

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31 July 2017

issue

2

1 reference

31 July 2017

page(s)

122-129

1 reference

Juvenile hyaline fibromatosis: two new patients and review of the literature

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Human serum hyaluronidase: characterization of a clinical assay.

21 January 2018

1 reference

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Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Infantile systemic hyalinosis in a black infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Juvenile hyaline fibromatosis: a report of two severe cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Oral manifestations of infantile systemic hyalinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Juvenile hyaline fibromatosis: an expanded clinicopathologic spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Fibromatosis hyalinica multiplex (juvenile hyalin fibromatosis). Light microscopic, electron microscopic, immunohistochemical, and biochemical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

Juvenile hyaline fibromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010422%29100%3A2%3C122%3A%3AAID-AJMG1236%3E3.0.CO%3B2-0

10.1002/1096-8628(20010422)100:2<122::AID-AJMG1236>3.0.CO;2-0

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference