Pubblicazioni

Daniela MELIS Pubblicazioni


2002
Articolo in rivista
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area
AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 109. Pag.183-190
ISSN:0148-7299.
Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G
Digital Object Identifier (DOI): 10.1002/ajmg.10347
Codice identificativo ISI: WOS:000175283700004
Codice identificativo SCOPUS: 2-s2.0-0036569298
Visualizza sul Database dei Prodotti (IRIS)
2002
Articolo in rivista
Guidelines for management of glycogen storage disease type I –European Study on Glycogen Storage Disease Type I (ESGSD I)
EUROPEAN JOURNAL OF PEDIATRICS. Vol. 161:. Pag.S112–S119-8
ISSN:0340-6199.
Jan Peter Rake Æ Gepke Visser Æ Philippe LabruneJames V. Leonard Æ Kurt Ullrich Æ G. Peter A., Smit; ESGSD I., Membersofthe ESGSD I are: Austria (W Endres; D, Skladal; Innsbruck), ; Belgium (E, Sokal; Brussels), ; Czech Republic (J, Zeman; Prague), ; France (P, Labrune; Clamart), ; Germany (P Bu¨, Hrdel; Leipzig, ; KUllrich, ; Hamburg, ; G Da¨, Ublin; U, Wendel; Du¨, sseldorf); GreatBritain (P, Lee; Jv, Leonard; G, Mieli-Vergani; London), ; Hungary(L Szo¨, Nyi; Budapest), ; Italy (P, Gandullia; R, Gatti; M di, Rocco; Genoa, ; Melis, D; G, Andria; Naples), ; Israel (S, Moses; Beersheva), ; Poland (J, Taybert; E, Pronicka; Warsaw), ; The Netherlands, (JPRake; Gpa, Smit; G, Visser; Groningen), ; Turkey (H O¨, Zen; NKocak, ; Ankara),
Digital Object Identifier (DOI): 10.1007/s00431-002-1016-7
Codice identificativo ISI: WOS:000178904800021
Codice identificativo SCOPUS: 2-s2.0-0036387478
Visualizza sul Database dei Prodotti (IRIS)
2002
Articolo in rivista
Granulocyte colony-stimulating factor in glycogen storagedisease type 1b. Results of the European Studyon Glycogen Storage Disease Type 1
EUROPEAN JOURNAL OF PEDIATRICS. Vol. 161. Pag.S83–S87-5
ISSN:0340-6199.
Gepke Visser Æ Jan Peter Rake Æ Philippe LabruneJames V. Leonard Æ Shimon Moses Æ Kurt UllrichUdo Wendel Æ Klaas H. Groenier Æ G. Peter A., Smit; W, Endres; D, Skladal; E, Sokal; J, Zeman; P, Labrune; P Bu¨, Hrdel; K, Ullrich; G Da¨, Ublin; U, Wendel; Jvleonard, ; P, Lee; G, Mieli-Vergani; P, Gandullia; R, Gatti; Mdi, Rocco; G, Andria; Melis, D; S, Moses; E, Pronicka; Dr, N Kocak; Dr, H O¨ zen
Digital Object Identifier (DOI): 10.1007/s00431-002-1010-0
Codice identificativo ISI: WOS:000178904800015
Codice identificativo SCOPUS: 2-s2.0-0036390010
Visualizza sul Database dei Prodotti (IRIS)
2002
Articolo in rivista
Molecular characterisation of GSD III subjects and identification of six novelmutations in AGL
HUMAN MUTATION. Vol. 20. Pag.480-480
ISSN:1059-7794.
Lucchiari, S; Donati, Ma; Parini, R; Melis, D; Gatti, R; Bresolin, N; Scarlato, G; Comi, Gp.
Codice identificativo ISI: WOS:000209544900013
Codice identificativo SCOPUS: 2-s2.0-18744419463
Visualizza sul Database dei Prodotti (IRIS)