Produktbild: Mitochondrial Case Studies

Mitochondrial Case Studies Underlying Mechanisms and Diagnosis

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Beschreibung

Produktdetails

Einband

Gebundene Ausgabe

Erscheinungsdatum

08.12.2015

Herausgeber

Russell Saneto + weitere

Verlag

Elsevier Science & Technology

Seitenzahl

338

Maße (L/B/H)

23,1/15,5/2,3 cm

Gewicht

680 g

Sprache

Englisch

ISBN

978-0-12-800877-5

Beschreibung

Portrait

Russell P. Saneto is a pediatric neurologist who specializes in diagnosis and treatment of mitochondrial disorders and intractable epilepsy. His PhD was in human biochemical genetics was obtained at the University of Texas Medical Branch. His medical degree was obtained from the Des Moines University of Osteopathic Medicine and he did his pediatric, pediatric neurology, and pediatric neurophysiology fellowship at the Cleveland Clinic in Ohio. He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children's Hospital over the past 15 years. He is currently the Head of the Mitochondrial Medicine group at Seattle Children's and is a professor in the department of Neurology and adjunct Professor in Pediatrics. He has appointments in both Pediatrics and Neurology at Seattle Children's and University of Washington.Sumit Parikh, MD is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He serves as the current chair of the United Mitochondrial Disease Foundation Scientific & Medical Advisor Board. He is the immediate Past-President of the Mitochondrial Medicine Society.

Produktdetails

Einband

Gebundene Ausgabe

Erscheinungsdatum

08.12.2015

Herausgeber

Verlag

Elsevier Science & Technology

Seitenzahl

338

Maße (L/B/H)

23,1/15,5/2,3 cm

Gewicht

680 g

Sprache

Englisch

ISBN

978-0-12-800877-5

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DE
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Elsevier Science & Technology
125 London Wall
EC2Y 5AS London
GB
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  • Produktbild: Mitochondrial Case Studies
  • 1. Clinical Correlates of Mitochondrial Physiology and Disease
    2. MELAS-encoded diseases
    3. MELAS-(classic presentation)
    4. MERRF
    5. Pearson Syndrome
    6. Kearn-Sayre Syndrome
    7. Chronic Progressive External Ophthalmoplegia
    8. Leber Hereditary Optic Neuropathy
    9. Leigh Syndrome
    10. NARP
    11. Maternal Inherited Diabetes
    12. Sporadic Myopathy
    13. Pyruvate Dehydrogenase Complex Deficiencies
    14. Friedreich Ataxia
    15. Leigh Syndrome
    16. Reversible Myopathy
    17. Childhood Alpers-Huttenlocher Syndrome
    18. Juvenile Alpers-Huttenlocher Syndrome
    19. Autosomal dominant Progressive External Ophthalmoplegia
    20. c10orf2 (Twinkle)
    21. MPV17/Deoxyguanosine Kinase
    22. RRM2B
    23. Mitochondrial Nasogastric Intestinal Encephalopathy
    24. Thymidine Kinase
    25. OPA1
    26. MFN2
    27. Aminoacyl-tRNA synthetase (CNS)
    28. Aminoacyl-tRNA synthetase (Non-CNS)
    29. MTO1
    30. Complex I
    31. Complex II
    32. Complex III (GRACILE)
    33. Complex IV
    34. Complex V
    35. Coenzyme Q10 (Primary Brain)
    36. Coenzyme Q10 (Primary Renal)