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Literature DB >> 23807318

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

Julien Baruteau¹, Philippe Sachs, Pierre Broué, Michele Brivet, Hendy Abdoul, Christine Vianey-Saban, Hélène Ogier de Baulny.

Abstract

Entities: Chemical Species

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Year: 2013 PMID： 23807318 DOI： 10.1007/s10545-013-9628-9

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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2 in total

1. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

Authors: Julien Baruteau; Philippe Sachs; Pierre Broué; Michele Brivet; Hendy Abdoul; Christine Vianey-Saban; Hélène Ogier de Baulny
Journal: J Inherit Metab Dis Date: 2013-06-27 Impact factor: 4.982

Review 2. Recognition and management of fatty acid oxidation defects: a series of 107 patients.

Authors: J M Saudubray; D Martin; P de Lonlay; G Touati; F Poggi-Travert; D Bonnet; P Jouvet; M Boutron; A Slama; C Vianey-Saban; J P Bonnefont; D Rabier; P Kamoun; M Brivet
Journal: J Inherit Metab Dis Date: 1999-06 Impact factor: 4.982

2 in total

21 in total

1. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

2. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Authors: Jerry Vockley; Barbara Burton; Gerard T Berry; Nicola Longo; John Phillips; Amarilis Sanchez-Valle; Pranoot Tanpaiboon; Stephanie Grunewald; Elaine Murphy; Alexandra Bowden; Wencong Chen; Chao-Yin Chen; Jason Cataldo; Deborah Marsden; Emil Kakkis
Journal: J Inherit Metab Dis Date: 2019-01 Impact factor: 4.982

Review 3. Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Authors: Fatima Djouadi; Jean Bastin
Journal: Cells Date: 2019-03-28 Impact factor: 6.600

Review 4. The Genetic Challenges and Opportunities in Advanced Heart Failure.

Authors: Fady Hannah-Shmouni; Sara B Seidelmann; Sandra Sirrs; Arya Mani; Daniel Jacoby
Journal: Can J Cardiol Date: 2015-08-21 Impact factor: 5.223

5. Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

Authors: C Bursle; R Weintraub; C Ward; R Justo; J Cardinal; D Coman
Journal: JIMD Rep Date: 2017-11-10

6. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

Authors: J Vockley; J Charrow; J Ganesh; M Eswara; G A Diaz; E McCracken; R Conway; G M Enns; J Starr; R Wang; J E Abdenur; J Sanchez-de-Toledo; D L Marsden
Journal: Mol Genet Metab Date: 2016-08-27 Impact factor: 4.797

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

1. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

Review 2. Recognition and management of fatty acid oxidation defects: a series of 107 patients.

1. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

2. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Review 3. Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Review 4. The Genetic Challenges and Opportunities in Advanced Heart Failure.

5. Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

6. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

7. Neonatal hypoglycemia.

8. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

9. Fatty Acid oxidation disorders in a chinese population in taiwan.

10. The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.