Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Letter: Patient with defect in leucine metabolism.

Literature DB >> 1256504

Letter: Patient with defect in leucine metabolism.

K Faull, P Bolton, B Halpern, J Hammond, D M Danks, R Hähnel, S P Wilkinson, S J Wysocki, P L Masters.

Abstract

Entities: Chemical Species

Mesh：

Substances：
Oxo-Acid-Lyases
Leucine

Year: 1976 PMID： 1256504 DOI： 10.1056/nejm197604292941823

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

Keyword Cloud
Cited

× No keyword cloud information.

26 in total

1. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.

Authors: G N Thompson; R A Chalmers; D Halliday
Journal: Eur J Pediatr Date: 1990-02 Impact factor: 3.183

2. 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Authors: S J Wysocki; R Hähnel
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

Review 3. Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors: Guilhian Leipnitz; Carmen Regla Vargas; Moacir Wajner
Journal: J Inherit Metab Dis Date: 2015-06-04 Impact factor: 4.982

4. NMDA Receptors and Oxidative Stress Induced by the Major Metabolites Accumulating in HMG Lyase Deficiency Mediate Hypophosphorylation of Cytoskeletal Proteins in Brain From Adolescent Rats: Potential Mechanisms Contributing to the Neuropathology of This Disease.

Authors: Carolina Gonçalves Fernandes; Paula Pierozan; Gilberto Machado Soares; Fernanda Ferreira; Ângela Zanatta; Alexandre Umpierrez Amaral; Clarissa Günther Borges; Moacir Wajner; Regina Pessoa-Pureur
Journal: Neurotox Res Date: 2015-07-15 Impact factor: 3.911

Letter: Patient with defect in leucine metabolism.

1. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.

2. 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Review 3. Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

4. NMDA Receptors and Oxidative Stress Induced by the Major Metabolites Accumulating in HMG Lyase Deficiency Mediate Hypophosphorylation of Cytoskeletal Proteins in Brain From Adolescent Rats: Potential Mechanisms Contributing to the Neuropathology of This Disease.

5. 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.

6. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

7. Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

Review 8. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

9. A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.

10. 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.