An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

R Biancheri; E (Elly) Verbeek; A de Rossi; R Gaggero; L Roccatagliate; R Gatti; Otto Diggelen; Frans Verheijen; Grazia Verheijen - Mancini

doi:10.1034/j.1399-0004.2002.610608.x

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

R Biancheri
, E (Elly) Verbeek
, A de Rossi
, R Gaggero
, L Roccatagliate
, R Gatti
, Otto Diggelen
, Frans Verheijen
, Grazia Verheijen - Mancini

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

20 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	443-447
Number of pages	5
Journal	Clinical Genetics
Volume	61
DOIs	https://doi.org/10.1034/j.1399-0004.2002.610608.x
Publication status	Published - 2002

Research programs

EMC MGC-02-96-01

Access to Document

10.1034/j.1399-0004.2002.610608.x

http://hdl.handle.net/1765/68487

Cite this

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title = "An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease",

author = "R Biancheri and Verbeek, \{E (Elly)\} and \{de Rossi\}, A and R Gaggero and L Roccatagliate and R Gatti and Otto Diggelen and Frans Verheijen and \{Verheijen - Mancini\}, Grazia",

year = "2002",

doi = "10.1034/j.1399-0004.2002.610608.x",

language = "Undefined/Unknown",

volume = "61",

pages = "443--447",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

}

TY - JOUR

T1 - An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

AU - Biancheri, R

AU - Verbeek, E (Elly)

AU - de Rossi, A

AU - Gaggero, R

AU - Roccatagliate, L

AU - Gatti, R

AU - Diggelen, Otto

AU - Verheijen, Frans

AU - Verheijen - Mancini, Grazia

PY - 2002

Y1 - 2002

U2 - 10.1034/j.1399-0004.2002.610608.x

DO - 10.1034/j.1399-0004.2002.610608.x

M3 - Article

SN - 0009-9163

VL - 61

SP - 443

EP - 447

JO - Clinical Genetics

JF - Clinical Genetics

ER -