Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations

被引：30

作者：

Applegarth, DA ^{[1
]}

Toone, JR ^{[1
]}

机构：

[1] Univ British Columbia, Dept Pediat, Vancouver, BC V6H 3V4, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.31030

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：186 / 188

页数：3

共 11 条

[1]

Applegarth D A, 2004, J Inherit Metab Dis, V27, P417, DOI 10.1023/B:BOLI.0000031222.38328.59

[2]

Applegarth DA, 2000, PRENATAL DIAG, V20, P367, DOI 10.1002/(SICI)1097-0223(200005)20:5<367::AID-PD814>3.0.CO

[3]

2-E

[4] Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis [J].

Applegarth, DA ;

Toone, JR .

MOLECULAR GENETICS AND METABOLISM, 2001, 74 (1-2) :139-146

[5] Incidence of inborn errors of metabolism in British Columbia, 1969-1996 [J].

Applegarth, DA ;

Toone, JR ;

Lowry, RB .

PEDIATRICS, 2000, 105 (01) :art. no.-e10

[6] NEONATAL NON-KETOTIC HYPERGLYCINEMIA - CLINICAL, BIOCHEMICAL AND NEUROPATHOLOGICAL STUDY INCLUDING ELECTRON-MICROSCOPIC FINDINGS [J].

BRUN, A ;

BORJESON, M ;

HULTBERG, B ;

SJOBLAD, S ;

AKESSON, H ;

LITWIN, E .

NEUROPADIATRIE, 1979, 10 (02) :195-205

[7]

HAMOSH A, 2001, METABOLIC MOL BASES, P2065, DOI DOI 10.1023/A:1017409002434

[8] Natural history of nonketotic hyperglycinemia in 65 patients [J].

Hoover-Fong, JE ;

Shah, S ;

Van Hove, JLK ;

Applegarth, D ;

Toone, J ;

Hamosh, A .

NEUROLOGY, 2004, 63 (10) :1847-1853

[9]

Ichinohe A., 2003, Journal of Inherited Metabolic Disease, V26, P65

[10] Glycine cleavage system in neurogenic regions [J].

Ichinohe, A ;

Kure, S ;

Mikawa, S ;

Ueki, T ;

Kojima, K ;

Fujiwara, K ;

Iinuma, K ;

Matsubara, Y ;

Sato, K .

EUROPEAN JOURNAL OF NEUROSCIENCE, 2004, 19 (09) :2365-2370

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