SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency

被引：2

作者：

Barshop, BA ^{[1
]}

Nyhan, WL ^{[1
]}

Climent, C ^{[1
]}

Rubio, V ^{[1
]}

机构：

[1] Inst Biomed Valencia, Valencia, Spain

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2001年 / 24卷 / 04期

关键词：

D O I：

10.1023/A:1010593916546

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

[No abstract available]

引用

页码：513 / 514

页数：2

共 3 条

[1]

ALLOPURINOL CHALLENGE TEST IN CHILDREN [J].

BURLINA, AB ;

FERRARI, V ;

DIONISIVICI, C ;

BORDUGO, A ;

ZACCHELLO, F ;

TUCHMAN, M .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (05) :707-712

[2]

HISTOPATHOLOGICAL FINDINGS IN A MALE WITH LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

CAPISTRANOESTRADA, S ;

MARSDEN, DL ;

NYHAN, WL ;

NEWBURY, RO ;

KROUS, HF ;

TUCHMAN, M .

PEDIATRIC PATHOLOGY, 1994, 14 (02) :235-243

[3]

RECURRENT EPISODES OF BIZARRE BEHAVIOR IN A BOY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY - DIAGNOSTIC FAILURE OF PROTEIN LOADING AND ALLOPURINOL CHALLENGE TESTS [J].

SPADA, M ;

GUARDAMAGNA, O ;

RABIER, D ;

VANDERMEER, SB ;

PARVY, P ;

BARDET, J ;

PONZONE, A ;

SAUDUBRAY, JM .

JOURNAL OF PEDIATRICS, 1994, 125 (02) :249-251

← 1 →