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Tyrosinemia / Fumarylacetoacetate hydrolase / Rare diseases / Nitisinone / Newborn screening / Fanconi syndrome / Jaundice / Tyrosinemia type II / Health / Medicine / Type I tyrosinemia


The National Organization for Rare Disorders NORD Guides for Physicians #1 Physician’s Guide to
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Document Date: 2012-12-18 11:57:21

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City

Danbury / Franklin / /

Company

Rare Disease Therapeutics Inc. / /

Country

Norway / United States / Canada / /

/

Event

Product Issues / /

Facility

Pathology Laval University / /

/

IndustryTerm

Rare Disease Therapeutics / food / energy / chemical processes / /

MedicalCondition

recessive disorder / untreated tyrosinemia type / hypertrophic cardiomyopathy / rare genetic metabolic disorder / rare diseases / past / tyrosinemia type / Renal Fanconi syndrome / Urea Cycle Disorders / Acute polyneuropathy / liver failure / pains in the legs / cirrhosis / potential liver cancer / Progressive cirrhosis / tyrosinemia / rare disorder / disorder / chronic liver failure / tyrosinemia type I / rickets / diarrhea / severe liver disease / Metabolic disorders / chronic form / Primary Lateral Sclerosis / Pompe Disease / end stage liver failure / hepatorenal tyrosinemia / acute life-threatening liver failure / tyrosinemia type / Hereditary Ataxia / hypertension / disease / kidney dysfunction / Ornithine Transcarbamylase Deficiency / hepatocellular carcinoma / Fever Diarrhea/bloody / recessive disorders / experience treating tyrosinemia type / Giant Hypertrophic Gastritis / Amyloidosis / untreated / tyrosinemia type / Multiple System Atrophy / pain / vomiting / Medullary Thyroid Cancer / liver cancer / rare disorders / frequent nosebleeds / Menetrier’s Disease / disorders / heart muscle weakness / dehydration / /

MedicalTreatment

Liver transplant / counseling / low protein diet / low-protein diet / /

Organization

Laval University / National Organization for Rare Disorders NORD Guides for Physicians / Department of Molecular Biology / U.S. Food and Drug Administration / National Organization for Rare Disorders / /

Person

ROBERT M. TANGUAY / Danielle Barckett / /

/

Position

Physician / Professor / Pediatrician / following physician / /

Product

Orfadin / gene / /

ProvinceOrState

Quebec / Connecticut / Tennessee / /

PublishedMedium

Molecular Biology / /

Technology

transplantation / /

URL

www.rarediseases.org / www.raretx.com / /

SocialTag