Arvelige cerebrookulorenale syndromer

Galina Sessa; Tina Duelund Hjortshøj; Martin Egfjord

Arvelige cerebrookulorenale syndromer

Galina Sessa, Tina Duelund Hjortshøj, Martin Egfjord

Institut for Klinisk Medicin

Abstract

Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

Bidragets oversatte titel	Hereditary cerebro-oculo-renal syndromes.
Originalsprog	Dansk
Artikelnummer	V07130452
Tidsskrift	Ugeskrift for Laeger
Vol/bind	177
Udgave nummer	4
Sider (fra-til)	353-356
Antal sider	4
ISSN	0041-5782
Status	Udgivet - 2015

Citationsformater

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title = "Arvelige cerebrookulorenale syndromer",

abstract = "Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.",

author = "Galina Sessa and Hjortsh{\o}j, {Tina Duelund} and Martin Egfjord",

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T1 - Arvelige cerebrookulorenale syndromer

AU - Sessa, Galina

AU - Hjortshøj, Tina Duelund

AU - Egfjord, Martin

PY - 2015

Y1 - 2015

N2 - Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

AB - Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

M3 - Tidsskriftartikel

C2 - 25350305

SN - 0041-5782

VL - 177

SP - 353

EP - 356

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 4

M1 - V07130452

ER -

Arvelige cerebrookulorenale syndromer

Abstract

Fingeraftryk

Citationsformater