GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA - UNVEILING NEW FEATURES?

被引：0

作者：

Medeiros, Leonardo Simao ^{[1
]}

Moura De Souza, Carolina Fischinger ^{[1
]}

Artigalas, Osvaldo ^{[2
]}

Galera, Marcial Francis ^{[3
]}

Costa, Roseli Divino ^{[3
]}

Oliveira, Dayse do Valle ^{[3
]}

Garcia-Ortiz, Jose Elias ^{[4
]}

Guerrero, Jesus Real ^{[5
]}

Oliveira, Joao Bosco ^{[6
]}

Doederlein Schwartz, Ida Vanessa ^{[1
]}

机构：

[1] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil

[2] Grp Hosp Conceicao, Childrens Hosp, Med Genet Unit, Porto Alegre, RS, Brazil

[3] Univ Fed Mato Grosso, Dept Pediat, Fac Med, Cuiaba, Brazil

[4] Inst Mexicano Seguro Social, Genet Div, Ctr Invest Biomed Occidente, Guadalajara, Mexico

[5] Inst Mexicano Seguro Social, Pediat Serv, Hosp Reg Zona 46, Guadalajara, Mexico

[6] Hosp Israelita Albert Einstein, Sao Paulo, Brazil

来源：

MOLECULAR GENETICS AND METABOLISM | 2023年 / 138卷 / 03期

关键词：

D O I：

10.1016/j.ymgme.2023.107487

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

114

引用

页码：91 / 92

页数：2

共 50 条

[1] Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks
Didem Demirbas
Rodrigo R. Arantes
Samantha Banford
Alberto B. Burlina
Analía Cabrera
Ana Chiesa
M. Luz Couce
Carlo Dionisi-Vici
Matthias Gautschi
Stephanie Grünewald
Eva Morava
Dorothea Möslinger
Sabine Scholl-Bürgi
Anastasia Skouma
Karolina M. Stepien
David J. Timson
Gerard T. Berry
M. Estela Rubio-Gozalbo
Orphanet Journal of Rare Diseases, 17
[2] Galactose epimerase deficiency: lessons from the GalNet registry
Derks, Britt
Demirbas, Didem
Arantes, Rodrigo R.
Banford, Samantha
Burlina, Alberto B.
Cabrera, Analia
Chiesa, Ana
Couce, M. Luz
Dionisi-Vici, Carlo
Gautschi, Matthias
Grunewald, Stephanie
Morava, Eva
Moslinger, Dorothea
Scholl-Burgi, Sabine
Skouma, Anastasia
Stepien, Karolina M.
Timson, David J.
Berry, Gerard T.
Rubio-Gozalbo, M. Estela
ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)
[3] URIDINE-DIPHOSPHATE GALACTOSE 4-EPIMERASE DEFICIENCY
OYANAGI, K
NAKATA, F
HIRANO, S
SOGAWA, H
TAKAYANAGI, N
MINAMI, R
TSUGAWA, S
NAKAO, T
ICHIHARA, N
EUROPEAN JOURNAL OF PEDIATRICS, 1981, 135 (03) : 303 - 304
[4] URIDINE-DIPHOSPHATE GALACTOSE 4-EPIMERASE DEFICIENCY
ICHIBA, Y
NAMBA, N
MISUMI, H
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1980, 134 (10): : 995 - 995
[5] Generalised uridine diphosphate galactose-4-epimerase deficiency
Walter, JH
Roberts, REP
Besley, GTN
Wraith, JE
Cleary, MA
Holton, JB
MacFaul, R
ARCHIVES OF DISEASE IN CHILDHOOD, 1999, 80 (04) : 374 - 376
[6] A NEW MASS-SCREENING METHOD OF DETECTING UDP-GALACTOSE-4-EPIMERASE DEFICIENCY
FUJIMURA, Y
KAWAMURA, M
NARUSE, H
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1980, 131 (01): : 15 - 22
[7] MYELODYSPLASIA AND DEFICIENCY OF URIDINE DIPHOSPHATE-GALACTOSE 4-EPIMERASE
ROSOFF, PM
JOURNAL OF PEDIATRICS, 1995, 127 (04): : 605 - 608
[8] GALACTOSEMIA - A NEW SEVERE VARIANT DUE TO URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY
HOLTON, JB
GILLETT, MG
MACFAUL, R
YOUNG, R
ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (11) : 885 - 887
[9] UNVEILING THE COST OF STROKE IN LATIN AMERICA
De Souza, A. C.
Etges, A. P.
Amaya, P.
Barboza, M.
Rocha, E.
Martins, S.
Saposnik, G.
INTERNATIONAL JOURNAL OF STROKE, 2023, 18 (03) : 411 - 411
[10] GALACTOSEMIA CAUSED BY GENERALIZED URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY
GARIBALDI, LR
CANINI, S
SUPERTIFURGA, A
LAMEDICA, G
FILOCAMO, M
MARCHESE, N
BORRONE, C
JOURNAL OF PEDIATRICS, 1983, 103 (06): : 927 - 930

← 1 2 3 4 5 →