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Rare diseases / Hepatology / Mitochondrial trifunctional protein / Proteins / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Fatty acids / HADHB / Hydroxyacyl-Coenzyme A dehydrogenase / Mitochondrial trifunctional protein deficiency / Health / Medicine / Genetic genealogy


ABSTRACT: Mitochondrial trifunctional protein (TFP) deficiency is a rare disorder of the fatty acid ␤-oxidation cycle with heterogeneous phenotypes and occurs secondary to either ␣- or ␤-subunit mutations. We char
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Document Date: 2012-05-31 13:41:17

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City

Duesseldorf / Tel Hashomer / LCHAD / Elpeleg / Nashville / Mooijer / /

Company

acyl-CoA / Sims HF / FAO / Harding / MacMillan / Wiley Periodicals Inc. / Busch HF. / Lehman / LKAT / Wolff J / Hypoglycemia Hypotonia Motor / /

Country

Canada / Israel / Germany / United States / /

Currency

pence / /

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Event

Force Majeure / /

Facility

University Children’s Hospital / Washington University / Sheba Medical Center / USA Clinic of General Pediatrics / University of Texas Southwestern Medical Center / Laboratory Medicine / University of Toronto / /

IndustryTerm

energy / energy depletion / cod liver oil / treatment protocol / medium-chain triglyceride oil / severe energy depletion / oil / cell energy metabolism / /

MedicalCondition

mild / reversible cardiomyopathy / episodic rhabdomyolysis / recurrent myoglobinuria / free radical-induced lipid membrane peroxidative injury / myopathy / varicella infection / chronic / progressive feature / disorder / limb-girdle myopathy / spinal muscular atrophies / metabolic disorders / pigmentary retinopathy / illness / chronic neuropathic weakness / liver disease / hypoglycemia / hypoketotic hypoglycemia / night blindness / acute myopathy / respiratory tract infection / Secondary bilateral Achilles tendon contractures / hypotonia Muscle weakness Motor delay Hypoglycemia / recurrent Reye-like encephalopathy / oxidation disorders / HMSN / cardiomyopathy / respiratory failure / pediatric neuromuscular disorders / lethargy / diseases / infection / renal failure / disorders / deformities / HELLP / acute respiratory failure / another disorder / infantile-onset progressive peripheral neuropathy / Exercise-triggered myoglobinuria / early-onset cardiomyopathy / lipid peroxidative injury / weakness Leg weakness Respiratory failure / peripheral neuropathy / severe muscle weakness / rare disorder / maternal HELLP syndrome / demyelination / myoglobinuria / exercise-induced myoglobinuria / hereditary neuropathies / necrosis / spinal muscular atrophy / disease / hereditary motor-sensory neuropathy / Exercise Illness Serum CK / episodic myoglobinuria / Mild facial muscle weakness / severe myoglobinuria / rhabdomyolysis / paEpisodic Rhabdomyolysis / progressive peripheral neuropathy / neonatal hypoglycemia / fetal fatty-acid oxidation disorder / hereditary motor-sensory neuropathies / transient respiratory failure / Stress-induced respiratory failure / Maternal acute fatty liver / syndrome / /

MedicalTreatment

low-fat diet / treatment protocol / /

Organization

Hospital for Sick Children / University of Texas Southwestern Medical Center / Dallas / Department of Laboratory Medicine and Pathobiology / University of Toronto / Toronto / University Children’s Hospital / Sheba Medical Center / Washington University / Department of Pediatric Neurology / Department of Pediatrics / Vanderbilt University School of Medicine / /

Person

Jerry Vockley / Beverly Powell / Ann Neurol / Bryan E. Hainline / G.T. Berry / Charles Roe / C. Dionisi-Vici / Nicola Longo / PROTEIN UTE SPIEKERKOETTER / INGRID TEIN / Van Calcar / Gail Chuck / Rebecca S. Wappner / Van Coster / Joyce Kobori / Diane Roe / Tony Perszyk / T. McGrew / /

Position

Weglicki WB / /

Product

DS / prednisone / Travert / /

ProvinceOrState

Maine / Ontario / Texas / Tennessee / Gillingham / /

Technology

treatment protocol / genotype / alpha / /

SocialTag