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Medicine / Mitochondrial trifunctional protein deficiency / Mitochondrial trifunctional protein / Thiolase / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Hydroxyacyl-Coenzyme A dehydrogenase / Cytochrome P450 reductase / Fatty-acid metabolism disorder / Mutation / Biology / Health / HADHB


HUMAN MUTATION 21:598^[removed]RESEARCH ARTICLE Molecular and Phenotypic Heterogeneity in Mitochondrial Trifunctional Protein Deficiency
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Document Date: 2012-05-31 13:41:14

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City

Duesseldorf / Dallas / New York / Kingston / Nashville / /

Company

acyl-CoA / enoyl-CoA / Sims HF / Washington University Institutional Review / Rohr / Wiley-Liss Inc. / Brown / GenBank / Lehman / Cox / John Wiley & Sons / Wiley InterScience / /

Country

Germany / /

Currency

pence / /

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Facility

Vanderbilt Children’s Hospital / TFP complex / University Institutional Review Boards / University of Texas Southwestern Medical Center / Vanderbilt University Medical Center / Heinrich Heine University Hospital / /

IndustryTerm

long chain / mutation site / energy production / treatment protocols / /

MedicalCondition

acute fatty liver / JE / myopathy / amino acid TFP DEFICIENCY AND / TFP DEFICIENCY AND / b-SUBUNIT MUTATIONS genase deficiency / cardiac dysfunction / significant maternal hepatic dysfunction / disorder / recurrent hypoketotic hypoglycemia / sudden infant death syndrome / metabolic disorders / illness / liver disease / hypoglycemia / hypoketotic hypoglycemia / fatty acid oxidation disorder / hypoventilation / cardiomyopathy / Shortness of breath / TFP deficiency / hepatopathy / skeletal myopathy / severe dilated cardiomyopathy / muscle pain / lethargy / mitochondrial trifunctional protein deficiency / diseases / dehydrogenase deficiency / infection / deficiency / Preeclampsia / late-onset progressive peripheral neuropathy / b-SUBUNIT MUTATIONS Maternal liver disease / disorders / Maternal liver diseases / DF / LCHAD deficiency / HELLP / Trifunctional protein deficiency / fatty acid oxidation disorders / clearly demonstrated deficiency / recurrent moderate cardiomyopathy / muscle weakness / peripheral neuropathy / human trifunctional protein deficiency / severe TFP deficiency / skeletal myopathy / Maternal HELLP syndrome / Mild trifunctional protein deficiency / myoglobinuria / MS / VLCAD deficiency / Disease / episodic myoglobinuria / Reye syndrome / severe fibrosis / HypoCardioSkeletal Neuropathy HELLP onset glycemia myopathy myopathy syndrome / Trifunctional enzyme deficiency / HELLP syndrome / rhabdomyolysis / severe hypertrophic cardiomyopathy / lactic acidosis / progressive peripheral neuropathy / neonatal hypoglycemia / fetal fatty-acid oxidation disorder / FAO disorder / recently discovered disease / maternal liver disease / respiratory insufficiency / inflammation / Maternal acute fatty liver / mitochondrial trifunctional protein deficiencies / syndrome / fetal trifunctional protein deficiency / /

MedicalTreatment

antibiotics / treatment protocols / /

Organization

Department of Pediatrics and Vanderbilt Children / Washington University / Department of General Pediatrics / National Institute of Health / Vanderbilt University School of Medicine / University of Texas Southwestern Medical Center / United Nations / Heinrich Heine University Hospital / Pediatrics and Vanderbilt Children’s Hospital / /

Person

Steve Cederbaum / Jerry Vockley / Ute Spiekerkoetter / Beverly Powell / Ann Neurol / Bryan E. Hainline / Friedrich Trefz / Hilary Vallance / G.T. Berry / Charles Roe / Nicola Longo / Ingrid Tein / Gail Chuck / William S. Sly / Arnold W. Strauss / Rebecca S. Wappner / Bruria Ben-Zeev / Crystal Structure / Andreas Dufke / Joyce Kobori / David Finegold / YA PKVLE GL / Diane Roe / Tony Perszyk / T. McGrew / /

Position

head of bacteriophage T4 / /

Product

DS / IS / /

ProvinceOrState

Alabama / Maine / Texas / Tennessee / /

RadioStation

Ausubel FM / /

Technology

gene expression / treatment protocols / genotype / gel electrophoresis / Genomics / antibodies / DNA sequencing / /

URL

www.interscience.wiley / www.scioncorp.com / www.invitrogen.com / /

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