MITOCHONDRIAL and METABOLIC DISORDERS- a primary care physician’s guide

Reprinted from a special supplement to Exceptional Parent Magazine
Made possible by an unrestricted educational grant from Sigma-Tau Pharmaceuticals, Inc.

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contents

INTRODUCTION

 

The Role of the Primary Care Physician in the Treatment of Children
with Mitochondrial Disease
, DAVID HIRSCH, MD...............................................................………...…............…...…..


2

OVERVIEW

 

The Spectrum of Mitochondrial Disease, ROBERT K. NAVIAUX, MD, PHD.......................................................….....

3

DIAGNOSIS

 

Deciding When to Refer, DAVID L. COULTER, MD............................................................………………………............

11

The Promise of DNA Analysis in Understanding Mitochondrial Disease,
DAVID FINEGOLD, MD..............…...........…...........…...........…...........…...........…...........…...........….….................….…......


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A New Horizon for the Diagnosis of Mitochondriopathies,
JESS G. THOENE, MD........................…...........…...........…...........…...........…...........…...........…................................…….....


12

Electrospray Tandem Mass Spectrometry Screening for Mitochondrial Diseases,
EDWIN W. NAYLOR, PHD...................…...........…...........…...........…...........…...........…...........…...........…...........…...........…


13

Mitochondrial Oxidative Phosphorylation Assays
Using Fresh Versus Frozen Muscle Biopsies
, DOUGLAS C. WALLACE, PHD ....................................................….......


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TREATMENT

 

The Role of Nutrition in Mitochondrial and Metabolic Diseases,
JENNIFER GWYNNE, RD, CNSD ................…...................…...........…...........…...........…...........…...........…...........…...........…


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The Use of Dichloroacetate in the Treatment of Mitochondrial Disease,
RICHARD HAAS, MD ...................…….................…...........…...........…...........…...........…...........…...........…...........…...........…


15

RESEARCH

 

Promising Avenues of Investigation in the
Diagnosis and Treatment of Mitochondrial Defects
, SALVATORE DIMAURO, MD...............................................…......


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Advances in Mitochondrial Disease Research, GEORGIRENE VLADUTIU, PHD.....................................................….....

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RESOURCES

 

Editorial Advisory Board..........................................................................................................………………………..............

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Glossary ...................................................................................................................................……………………………..............

20

Resources and References for the Physician...................................................................................…………………...........

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Health Insurance Information Offices...........................................................................................……………………............

22


Presented by the UCSD MMDC.