P.0177 Partial ornithine-transcarbamylase deficiency, autoimmunity and psychosis – a complex case report

European Neuropsychopharmacology ◽

10.1016/j.euroneuro.2021.10.171 ◽

2021 ◽

Vol 53 ◽

pp. S128-S129

Author(s):

R.G. Marinescu ◽

M. Fadgyas-Stanculete ◽

O.O. Capatina

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Complex Case ◽

Ornithine Transcarbamylase Deficiency

Download Full-text

The Diagnosis and Management of Ornithine Transcarbamylase Deficiency in Pregnancy: A Case Report

Perinatal Journal ◽

10.2399/prn.11.0191006 ◽

2011 ◽

pp. 23-27

Author(s):

Orkun Çetin

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency ◽

Diagnosis And Management ◽

Download Full-text

CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report

Neuroradiology ◽

10.1007/s002340050351 ◽

1996 ◽

Vol 38 (8) ◽

pp. 796-799 ◽

Author(s):

S. K. Bajaj ◽

G. Kurlemann ◽

G. Schuierer ◽

P. E. Peters

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency ◽

Download Full-text

Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization: A Case Report

Journal of Korean Medical Science ◽

10.3346/jkms.2007.22.3.572 ◽

2007 ◽

Vol 22 (3) ◽

pp. 572 ◽

Author(s):

Hyoung-Song Lee ◽

Jin Hyun Jun ◽

Hye Won Choi ◽

Chun Kyu Lim ◽

Han-Wook Yoo ◽

...

Keyword(s):

In Situ Hybridization ◽

Case Report ◽

Fluorescence In Situ Hybridization ◽

Preimplantation Genetic Diagnosis ◽

Genetic Diagnosis ◽

Ornithine Transcarbamylase ◽

Simultaneous Analysis ◽

Ornithine Transcarbamylase Deficiency

Download Full-text

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report

Brain and Development ◽

10.1016/j.braindev.2009.07.001 ◽

2010 ◽

Vol 32 (7) ◽

pp. 567-570 ◽

Author(s):

Tohru Okanishi ◽

Tetsuya Ito ◽

Yoko Nakajima ◽

Koichi Ito ◽

Hiroki Kakita ◽

...

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency ◽

Neonatal Hyperammonemia

Download Full-text

Ornithine Transcarbamylase Deficiency: A Case Report

Neuropediatrics ◽

10.1055/s-2007-973590 ◽

1998 ◽

Vol 29 (06) ◽

pp. 331-332 ◽

Author(s):

T. Martland ◽

A. Mbamali ◽

C. Rittey ◽

S. Tanner ◽

J. Bonham ◽

...

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency

Download Full-text

Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature

Journal of Medical Case Reports ◽

10.1186/1752-1947-4-361 ◽

2010 ◽

Vol 4 (1) ◽

Author(s):

Jason R Pinner ◽

Mary-Louise Freckmann ◽

Edwin P Kirk ◽

Makoto Yoshino

Keyword(s):

Case Report ◽

Early Adolescence ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency ◽

Review Of The Literature ◽

Download Full-text

LATE ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY: A CASE REPORT

Pediatric Pathology & Molecular Medicine ◽

10.1080/pdp.22.2.153.157 ◽

2003 ◽

Vol 22 (2) ◽

pp. 153-157

Author(s):

Smaragdi Fessatou ◽

Anastasia Garoufi ◽

Helen Tsapra ◽

George Maropoulos ◽

Helen Michelakakis ◽

...

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency

Download Full-text

Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: A case report

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-007-0495-0 ◽

2007 ◽

Vol 30 (3) ◽

pp. 405-405 ◽

Author(s):

M. A. Chiong ◽

K. Carpenter ◽

J. Christodoulou

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency

Download Full-text

High-flow continuous hemodiafiltration for hyperammonemia associated with ornithine transcarbamylase deficiency: a case report

Journal of the Japanese Society of Intensive Care Medicine ◽

10.3918/jsicm.20.25 ◽

2013 ◽

Vol 20 (1) ◽

pp. 25-28 ◽

Author(s):

Koji Hoshino ◽

Ryou Nishisako ◽

Koji Tateishi ◽

Takeshi Yokoyama ◽

Shin Kawana ◽

...

Keyword(s):

Case Report ◽

High Flow ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency ◽

Continuous Hemodiafiltration

Download Full-text

LATE ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY: A CASE REPORT

Pediatric Pathology & Molecular Medicine ◽

10.1080/15227950307727 ◽

2003 ◽

Vol 22 (2) ◽

pp. 153-157

Author(s):

Smaragdi Fessatou ◽

Anastasia Garoufi ◽

Helen Tsapra ◽

George Maropoulos ◽

Helen Michelakakis ◽

...

Keyword(s):

Case Report ◽

Ornithine Transcarbamylase ◽

Ornithine Transcarbamylase Deficiency

Download Full-text