Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

J.P. Rake; AM ten Berge; G. Visser; E Verlindt; K.E. Niezen-Koning; C.H.C.M. Buys; G.P.A. Smit; H Scheffer

Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Translated title of the contribution: Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

J.P. Rake, AM ten Berge, G. Visser, E Verlindt, K.E. Niezen-Koning, C.H.C.M. Buys, G.P.A. Smit, H Scheffer

Metabolic diseases

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

Translated title of the contribution	Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Original language	Undefined/Unknown
Pages (from-to)	322-330
Number of pages	9
Journal	European Journal of Pediatrics
Volume	159
Publication status	Published - 2000

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

@article{31910a526aa14bebb29b5dfa2eb7b962,

title = "Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.",

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "J.P. Rake and {ten Berge}, AM and G. Visser and E Verlindt and K.E. Niezen-Koning and C.H.C.M. Buys and G.P.A. Smit and H Scheffer",

year = "2000",

language = "Undefined/Unknown",

volume = "159",

pages = "322--330",

journal = "European Journal of Pediatrics",

issn = "0340-6199",

publisher = "Springer-Verlag",

}

TY - JOUR

T1 - Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

AU - Rake, J.P.

AU - ten Berge, AM

AU - Visser, G.

AU - Verlindt, E

AU - Niezen-Koning, K.E.

AU - Buys, C.H.C.M.

AU - Smit, G.P.A.

AU - Scheffer, H

PY - 2000

Y1 - 2000

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0340-6199

VL - 159

SP - 322

EP - 330

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

ER -