PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA

被引：0

作者：

Chen, Margaret A. ^{[1
]}

Wortmann, Saskia B. ^{[2
,3
,4
]}

Botto, Lorenzo D. ^{[5
]}

Coughlin, Curtis R. ^{[6
]}

Descartes, Maria ^{[7
]}

Kyriss, McKenna ^{[1
]}

Maranda, Bruno ^{[8
]}

Pitt, James ^{[9
,10
]}

Potente, Catherine ^{[7
]}

Rodenburg, Richard ^{[11
]}

Sampath, Srirangan ^{[1
]}

van Settend, Petra ^{[12
]}

Vockley, Gerard ^{[13
,14
]}

Waters, Paula J. ^{[8
]}

Thomas, Janet A. ^{[6
]}

Weber, James L. ^{[1
]}

White, Susan M. ^{[9
,10
]}

Tiller, George E. ^{[15
]}

Wevers, Ron A. ^{[11
]}

机构：

[1] PreventionGenetics, Marshfield, WI USA

[2] Amalia Childrens Hosp, RadboudUMC, Nijmegen, Netherlands

[3] Salzburger Landeskliniken SALK, Salzburg, Austria

[4] Paracelsus Med Univ PMU, Salzburg, Austria

[5] Univ Utah, Sch Med, Salt Lake City, UT USA

[6] Childrens Hosp Colorado, Anschutz Med Campus, Aurora, CO USA

[7] Univ Alabama Birmingham, Birmingham, AL USA

[8] Univ Sherbrooke, Quebec City, PQ, Canada

[9] Royal Childrens Hosp, Murdoch Childrens Res Inst, Flemington Rd, Parkville, Vic 3052, Australia

[10] Univ Melbourne, Parkville, Vic 3052, Australia

[11] RadboudUMC, Nijmegen, Netherlands

[12] Rijnstate Hosp, Arnhem, Netherlands

[13] Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15260 USA

[14] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA

[15] Kaiser Permanente, Los Angeles, CA USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2016年 / 117卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：250 / 251

页数：2

共 50 条

[1] Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
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[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2017, 40 (03) : 423 - 431
[2] EXCRETION OF OROTIC ACID AND OROTIDINE IN HETEROZYGOTES OF CONGENITAL OROTIC ACIDURIA
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[J]. NATURE, 1963, 197 (486) : 194 - &
[3] Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms
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[J]. TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1998, 185 (01): : 67 - 70
[4] Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation
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[J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 26
[5] OROTIC ACIDURIA
FOX, RM
FIRKIN, BG
[J]. AUSTRALASIAN ANNALS OF MEDICINE, 1968, 17 (02): : 164 - &
[6] HEREDITARY OROTIC ACIDURIA WITH IMMUNDEFECIENCY AND DYSERYTHROPOIETIC/MYELODYSPIASTIC CHANGES: A NOVEL URIDINE-5-MONOPHOSPHATE SYNTHASE (UMPS) MUTATION
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[7] HEREDITARY OROTIC ACIDURIA
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PORTER, FS
[J]. SOUTHERN MEDICAL JOURNAL, 1967, 60 (12) : 1361 - &
[8] OROTIC ACIDURIA OF PREGNANCY
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[J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1973, 116 (01) : 57 - 61
[9] HEREDITARY OROTIC ACIDURIA
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[J]. TRANSACTIONS OF THE ASSOCIATION OF AMERICAN PHYSICIANS, 1963, 76 : 214 - 221
[10] HYPOGAMMAGLOBULINEMIA IN OROTIC ACIDURIA
ETZIONI, A
[J]. JOURNAL OF PEDIATRICS, 1989, 115 (02): : 332 - 333

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