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Literature DB >> 8794176

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

S W Brusilow¹, N E Maestri.

Abstract

Entities: Chemical

Mesh：

Substances：
Ammonia
Urea

Year: 1996 PMID： 8794176

Source DB: PubMed Journal: Adv Pediatr ISSN： 0065-3101

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Cited

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100 in total

1. Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman.

Authors: T Perpoint; L Argaud; Q Blanc; D Robert
Journal: Intensive Care Med Date: 2001-11-07 Impact factor: 17.440

2. Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.

Authors: Carlos J Perez; Jean Jaubert; Jean-Louis Guénet; Kirstin F Barnhart; Catherine M Ross-Inta; Vicente C Quintanilla; Isabelle Aubin; Jimi L Brandon; Nancy W Otto; John DiGiovanni; Irma Gimenez-Conti; Cecilia Giulivi; Donna F Kusewitt; Claudio J Conti; Fernando Benavides
Journal: Am J Pathol Date: 2010-08-19 Impact factor: 4.307

3. Astrocytes protect neurons from ammonia toxicity.

Authors: K V Rama Rao; K S Panickar; A R Jayakumar; M D Norenberg
Journal: Neurochem Res Date: 2005-10 Impact factor: 3.996

4. One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.

Authors: Sema Kalkan Uçar; Burcu Ozbaran; Yasemin Atik Altinok; Melis Kose; Ebru Canda; Mehtap Kagnici; Mahmut Coker
Journal: JIMD Rep Date: 2015-02-10

5. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

Authors: C E Keegan; D M Martin; D J Quint; J L Gorski
Journal: Eur J Pediatr Date: 2003-02-07 Impact factor: 3.183

6. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

Authors: Wendy Smith; George A Diaz; Uta Lichter-Konecki; Susan A Berry; Cary O Harding; Shawn E McCandless; Cindy LeMons; Joe Mauney; Klara Dickinson; Dion F Coakley; Tristen Moors; Masoud Mokhtarani; Bruce F Scharschmidt; Brendan Lee
Journal: J Pediatr Date: 2013-01-13 Impact factor: 4.406

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

1. Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman.

2. Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.

3. Astrocytes protect neurons from ammonia toxicity.

4. One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.

5. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

6. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

7. Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Review 8. Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

9. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

10. Amyloid-β regulates gap junction protein connexin 43 trafficking in cultured primary astrocytes.