Chronic Granulomatous Disease, Ornithine Transcarbamylase Deficiency and X-inactivation

被引：0

作者：

Zerbe, Christa ^{[1
]}

Hsu, Amy P. ^{[2
]}

Kreuzburg, Samantha ^{[1
]}

Kuhns, Douglas B. ^{[3
,4
]}

Holland, Steven M. ^{[5
]}

机构：

[1] NIH, Bldg 10, Bethesda, MD 20892 USA

[2] Lab Clin Immunol & Microbiol, Immunopathogenesis Sect, Bethesda, MD 20892 USA

[3] Leidos Biomedical Res Inc, Neutrophil Monitoring Lab, Reston, VA USA

[4] Frederick Natl Lab Canc Res, Frederick, MD USA

[5] NIAID, Div Intramural Res, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2018年 / 38卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：436 / 436

页数：1

共 50 条

[21] EVIDENCE FOR X-LINKED INHERITANCE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

SHORT, EM ;

SNODGRASS, PJ ;

ROSENBERG, LE ;

CONN, HO .

JOURNAL OF CLINICAL INVESTIGATION, 1972, 51 (06) :A90-+

[22] Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency [J].

Scharre, Svenja ;

Posset, Roland ;

Garbade, Sven F. ;

Gleich, Florian ;

Seidl, Marie J. ;

Druck, Ann-Catrin ;

Okun, Juergen G. ;

Gropman, Andrea L. ;

Nagamani, Sandesh C. S. ;

Hoffmann, Georg F. ;

Koelker, Stefan ;

Zielonka, Matthias .

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2022, 9 (11) :1715-1726

[23] CARNITINE DEFICIENCY ASSOCIATED WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

MAYATEPEK, E ;

KURCZYNSKI, TW ;

HOPPEL, CL ;

GUNNING, WT .

PEDIATRIC NEUROLOGY, 1991, 7 (03) :196-199

[24] Ornithine transcarbamylase deficiency diagnosed in pregnancy [J].

Celik, Ozlem ;

Buyuktas, Deram ;

Aydin, Ahmet ;

Acbay, Ozer .

GYNECOLOGICAL ENDOCRINOLOGY, 2011, 27 (12) :1052-1054

[25] IMMUNOCHEMICAL ANALYSES IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

MCREYNOLDS, JW ;

ROSENBERG, LE .

PEDIATRIC RESEARCH, 1977, 11 (04) :460-460

[26] Gene therapy for ornithine transcarbamylase deficiency [J].

Kiwaki, K ;

Matsuda, I .

ACTA PAEDIATRICA JAPONICA, 1996, 38 (02) :189-192

[27] The molecular basis of ornithine transcarbamylase deficiency [J].

Tuchman, M ;

McCullough, BA ;

Yudkoff, M .

EUROPEAN JOURNAL OF PEDIATRICS, 2000, 159 (Suppl 3) :S196-S198

[28] mRNA THERAPY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

Sablad, Marciano ;

Bao, Yanjie ;

Vega, Jerel ;

Bhaskaran, Hari ;

Perez-Garcia, Carlos ;

Gonzalez, Jose ;

Dam, Thanhchau ;

Limphong, Patty ;

Davis, Jared ;

Karmali, Priya ;

Parker, Suezanne ;

Chivukula, Pad .

MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) :298-298

[29] HYPERAMMONAEMIA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

HOPKINS, IJ ;

CONNELLY, JF ;

DAWSON, AG ;

HIRD, FJR ;

MADDISON, TG .

ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) :143-&

[30] X-Chromosome Genetic Association Test Accounting for X-Inactivation, Skewed X-Inactivation, and Escape from X-Inactivation [J].

Wang, Jian ;

Yu, Robert ;

Shete, Sanjay .

GENETIC EPIDEMIOLOGY, 2014, 38 (06) :483-493

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