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Genetic genealogy / Propionic acidemia / Methylmalonic acidemia / Glutaric aciduria type 1 / Glutaric acidemia type 2 / Organic acidemia / Metabolic acidosis / Acidosis / Inborn error of metabolism / Health / Medicine / Rare diseases


Natural history of propionic acidemia
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Document Date: 2012-01-04 11:28:44

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City

Houston / Washington D.C. / Washington / D.C. / Rochester / Birmingham / Boston / Palo Alto / Chicago / /

Company

R.J. Rodenburg L.P. / J.E. Sambrano L.C. / IgG / D.H. Clement S.A. / Garrett / /

Country

Japan / United Kingdom / United States / /

/

Event

Product Issues / /

Facility

Texas Children's Hospital / Stanford University / Illinois College of Medicine / Georgetown University / Children's National Medical Center / Birmingham Children's Hospital / Mayo Clinic / Tufts Medical Center / Baylor College of Medicine / USA Children's National Medical Center / /

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IndustryTerm

in vitro systems / energy metabolism / /

MedicalCondition

Leber Hereditary Optic Neuropathy / severe hyperglycemia / torsades de pointes / dementia / seizures / secondary mitochondrial dysfunction / Metabolic stroke / acidemia mimicking diabetic ketoacidosis / coma / chronic inflammation / diabetic ketoacidosis / disorder / tubulointerstitial nephritis / metabolic disorders / Sinus bradycardia / viral and bacterial infections / Mitochondrial dysfunction / Fatal heart failure / Cardiomyopathy / complications Although pancreatitis / Premature ovarian failure / exfoliative dermatosis / metabolic acidosis / Hyperglycemia / neutropenia / Cardiomyopathies / lethargy / Myelodysplasia / metabolic strokes / Pancreatitis / Epilepsy / hypotonia / dystonia / inborn errors of metabolism / extrapyramidal syndrome / Renal failure / rash / complications Hypoglycemia / disorders / Pancytopenia / fatal cardiomyopathy / Adult-onset chorea / Confluent parakeratosis / syncope / inherited disorders / Ventricular ectopic beats / Pancreatic disease / acrodermatitis / autosomal recessive disorder / acute striatal necrosis / optic neuropathy / long QT syndrome / osteopenia / Arrhythmia / insulin resistance / immune dysfunction / disease / Hypertriglyceridemia / rst seizure / hypertrophic pyloric stenosis / Late onset optic neuropathy / undiagnosed dilated cardiomyopathy / metabolic disease / acute pancreatitis / syncopal episodes / /

MedicalTreatment

low protein diet / renal transplant / Parenteral nutrition / /

NaturalFeature

Eddie Island / /

Organization

Tufts Medical Center / Birmingham Children's Hospital / Pinole / Highland Park / Baylor College of Medicine / Texas Children's Hospital / Georgetown University / Division of Genetics / USA Propionic Acidemia Foundation / Illinois College / Department of Pediatrics / National Medical Center / University of Illinois / Department of Molecular and Human Genetics / Organic Acidemia Association / Stanford University / USA Children's National Medical Center / /

Person

B. Chabrol / V / Jan Kraus / Gregory M. Enns / V. Reid Sutton / Dietrich Matern / R.D. de Kremer / V / Loren Pena / Charles Venditti / J. Sloan / V / Kimberly A. Chapman / Bethesda / Marshall L. Summar / Keiko Ueda / S. Cederbaum / B. Kakavand / V / Nicholas Ah Mew / Brittany Smith / Andrea Gropman / Y. de Keyzer / V / Kathy Stagni / Jill Franks / S. Romano / V / Gastrointestinal / Z.R. Williams / Anupam Chakrapani / Erin MacLeod / Turk / J. Pediatr / A. Schroeder / /

Position

author / Corresponding author / /

Product

glycine / propionate carboxylation / /

ProvinceOrState

Illinois / Pennsylvania / /

Region

Latin America / /

SportsLeague

Stanford University / /

Technology

spectroscopy / genotype / alpha / ultrasound / transplantation / MRI / /

URL

www.elsevier.com/locate/ymgme / http /

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