A woman with untreated galactosaemia

被引：25

作者：

Lee, PJ

Lilburn, M

Wendel, U

Schadewaldt, P

机构：

[1] UCL Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, London WC1N 3BG, England

[2] Univ Klinikum, Klin Allgemeine Padiatrie, Dusseldorf, Germany

来源：

LANCET | 2003年 / 362卷 / 9382期

关键词：

D O I：

10.1016/S0140-6736(03)14070-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：446 / 446

页数：1

共 5 条

[1] Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast [J].

Lai, K ;

Elsas, LJ .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 271 (02) :392-400

[2] Bone mineral density in patients with classic galactosaemia [J].

Rubio-Gozalbo, ME ;

Hamming, S ;

van Kroonenburgh, MJPG ;

Bakker, JA ;

Vermeer, C ;

Forget, PP .

ARCHIVES OF DISEASE IN CHILDHOOD, 2002, 87 (01) :57-60

[3] LONG-TERM OUTCOME IN 134 PATIENTS WITH GALACTOSEMIA [J].

SCHWEITZER, S ;

SHIN, Y ;

JAKOBS, C ;

BRODEHL, J .

EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (01) :36-43

[4] LONG-TERM PROGNOSIS IN GALACTOSEMIA - RESULTS OF A SURVEY OF 350 CASES [J].

WAGGONER, DD ;

BUIST, NRM ;

DONNELL, GN .

JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (06) :802-818

[5] Recommendations for the management of galactosaemia [J].

Chiswick, M ;

Marcovitch, H .

ARCHIVES OF DISEASE IN CHILDHOOD, 1999, 80 (01) :96-96

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