Literature DB >> 128291

Kniest syndrome with dominant inheritance and mucopolysacchariduria.

H J Kim, N G Beratis, P Brill, E Raab, K Hirschhorn, R Matalon.   

Abstract

A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that this syndrome is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.

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Year:  1975        PMID： 128291      PMCID： PMC1762909     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  17 in total

1.  Determination of 2-deoxy-2-sulfoaminohexose content of mucopolysaccharides.

Authors:  D LAGUNOFF; G WARREN
Journal:  Arch Biochem Biophys       Date:  1962-12       Impact factor: 4.013

2.  Chemistry of beta-heparin (chondroitinsulfuric acid-B).

Authors:  J A CIFONELLI; J LUDOWIEG; A DORFMAN
Journal:  J Biol Chem       Date:  1958-09       Impact factor: 5.157

3.  The nature of the link between protein and carbohydrate of a chondroitin sulphate complex from hyaline cartilage.

Authors:  H MUIR
Journal:  Biochem J       Date:  1958-06       Impact factor: 3.857

4.  [Differential diagnosis between dysostosis enchondralis and chondrodystrophy].

Authors:  W KNIEST
Journal:  Z Kinderheilkd       Date:  1952

5.  Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

Authors:  R Matalon; A Dorfman
Journal:  Proc Natl Acad Sci U S A       Date:  1966-10       Impact factor: 11.205

6.  The acid mucopolysaccharides in normal urine.

Authors:  D P Varadi; J A Cifonelli; A Dorfman
Journal:  Biochim Biophys Acta       Date:  1967-06-13

7.  [Kniest's disease].

Authors:  P Maroteaux; J Spranger
Journal:  Arch Fr Pediatr       Date:  1973 Aug-Sep

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

Authors:  R Matalon; B Arbogast; P Justice; I K Brandt; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1974-11-27       Impact factor: 3.575

9.  The Kniest syndrome.

Authors:  C D Siggers; D L Rimoin; J P Dorst; S B Doty; B R Williams; D W Hollister; R Silberberg; R E Cranley; R L Kaufman; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1974

10.  Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.

Authors:  N G Beratis; B M Turner; R Weiss; K Hirschhorn
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756
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  6 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Kniest syndrome.

Authors:  V Stanescu; R Stanescu; P Maroteaux
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

3.  Kniest disease with Pierre Robin syndrome and hydrocephalus.

Authors:  M Cirillo Silengo; G F Davi; R Bianco; A DeMarco; P Franceschini
Journal:  Pediatr Radiol       Date:  1983

4.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

5.  Keratan sulphate excretion in a patient with Kniest dysplasia.

Authors:  C A Pennock; I R Gordon; K Longdon; D Burman
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

6.  Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Authors:  Sarah P Meredith; Allan J Richards; Philip Bearcroft; Arabella V Pouson; Martin P Snead
Journal:  Br J Ophthalmol       Date:  2007-03-08       Impact factor: 4.638
  6 in total

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