Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type

J. W. Oorthuys; D. H. Loewer-Sieger; R. B. Schutgens; R. J. Wanders; H. S. Heymans; E. M. Bleeker-Wagemakers

doi:10.3109/13816818709031467

Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type

J. W. Oorthuys
, D. H. Loewer-Sieger
, R. B. Schutgens
, R. J. Wanders
, H. S. Heymans
, E. M. Bleeker-Wagemakers

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed RCDP to be a peroxisomal disorder. Peroxisomal investigations may be important in defining the prognosis for an individual patient, and are definitely of use in antenatal diagnosis

Original language	English
Pages (from-to)	183-185
Journal	Ophthalmic paediatrics and genetics
Volume	8
Issue number	3
DOIs	https://doi.org/10.3109/13816818709031467
Publication status	Published - 1987

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10.3109/13816818709031467

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title = "Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type",

abstract = "The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed RCDP to be a peroxisomal disorder. Peroxisomal investigations may be important in defining the prognosis for an individual patient, and are definitely of use in antenatal diagnosis",

author = "Oorthuys, \{J. W.\} and Loewer-Sieger, \{D. H.\} and Schutgens, \{R. B.\} and Wanders, \{R. J.\} and Heymans, \{H. S.\} and Bleeker-Wagemakers, \{E. M.\}",

year = "1987",

doi = "10.3109/13816818709031467",

language = "English",

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pages = "183--185",

journal = "Ophthalmic paediatrics and genetics",

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publisher = "Aeolus Press",

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T1 - Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type

AU - Oorthuys, J. W.

AU - Loewer-Sieger, D. H.

AU - Schutgens, R. B.

AU - Wanders, R. J.

AU - Heymans, H. S.

AU - Bleeker-Wagemakers, E. M.

PY - 1987

Y1 - 1987

N2 - The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed RCDP to be a peroxisomal disorder. Peroxisomal investigations may be important in defining the prognosis for an individual patient, and are definitely of use in antenatal diagnosis

AB - The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed RCDP to be a peroxisomal disorder. Peroxisomal investigations may be important in defining the prognosis for an individual patient, and are definitely of use in antenatal diagnosis

U2 - 10.3109/13816818709031467

DO - 10.3109/13816818709031467

M3 - Article

C2 - 3438058

SN - 0167-6784

VL - 8

SP - 183

EP - 185

JO - Ophthalmic paediatrics and genetics

JF - Ophthalmic paediatrics and genetics

IS - 3

ER -

Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type

Abstract

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