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Rare diseases / Newborn screening / Guthrie test / Galactose-1-phosphate uridylyltransferase deficiency / Medical genetics / Galactosemia / Biotinidase deficiency / Phenylketonuria / 3-Methylcrotonyl-CoA carboxylase deficiency / Health / Medicine / Genetic genealogy


NUTRITION ISSUES IN GASTROENTEROLOGY, SERIES #41 Carol Rees Parrish, R.D., M.S., Series Editor
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Document Date: 2011-06-13 10:42:42

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File Size: 130,88 KB

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City

Charlottesville / New York / /

Company

Screening Foundation Inc. / acyl-CoA / McGraw-Hill / acyl-Coa Dehyrogenase Def / acyl-CoA Dehydrogenase Def / Fatty Acid Oxidation Support Group / Berry SA. / /

Country

United States / /

Currency

MGA / /

Facility

American College of Medical Genetics / University of Wisconsin / University of Virginia Health Systems / /

IndustryTerm

Internet resources / dairy products / energy source / state protocol / genetic services / Medium chain / health department web site / Treatment for the severe disorders / Internet sources / /

MedicalCondition

MSUD - Maple Syrup Urine Disease / Congenital Adrenal Hyperplasia / GALT deficiency / acute illness / myopathy / seizures / urea cycle disorders / Hydroxylacyl CoA Dehydrogenase Deficiency / Pediatric Diabetes / coma / Hb S/C Disease / Biochemical Genetic Disorders / Citrullinemia / galactosemia / Urea Cycle Disorders Urea cycle disorders / late onset multiple carboxylase deficiency / Medium Chain acyl CoA Dehydrogenase Deficiency / disorder / isoleucine and valine deficiency / diarrhea / severe biotinidase deficiency / Phenylketonuria / metabolic disorders / illness / hypoglycemia / Homocystinuria / metabolic acidosis / cerebral edema / partial deficiency / bilateral cataracts / fever / Critical Range Possible Classic Galactosemia / lethargy / septicemia / vomiting / Inherited Disease / rare disorders / severe disorders / PKU / osteoporosis / hypotonia / OF CARBOHYDRATE METABOLISM Galactosemia / inborn errors of metabolism / Methylcrotonyl CoA Carboxylase Deficiency / deficiency / Very Long Chain acyl Co-A Dehydrogenase Deficiency / Acid Oxidation Disorders / AA Phenylketonuria / disorders / selected genetic disorders / only citrullinemia and argininosuccinic acidemia / Trifunctional Protein Deficiency / reflexes Citrullinemia / organic acid disorders / fatty acid oxidation disorders / lens dislocation / Others Congenital Hypothyroidism / nausea / skin rash / progressive myopia / alopecia / conjunctivitis / Hb Pathies Sickle Cell Anemia / Cystic Fibrosis / MS / Argininosuccinate lyase Lethargy / hearing impairment / ataxia / hemoglobinopathies / inherited metabolic disorders / gram-negative infections / galactosemia looks / betaine TYR-I* Severe liver failure / MSUD* Encephalopathy / Classical Galactosemia / nonketotic hypoglycemia / Congenital hypothyroidism / OF AMINO ACID OR PROTEIN METABOLISM Disorders / untreated galactosemia / abnormal galactosemia newborn screen / severe deficiency / autosomal recessive disorders / hyperventilation / biotinidase deficiency / Maple Syrup Urine Disease / /

MedicalTreatment

liver transplant / protein-restricted diet / low fat diet / /

Organization

Med Assoc / Genetics Research Center / Metabolic Treatment Center / Genetics Resource Center / the American College / University of Virginia Health Systems / Division of Medical Genetics / Save Babies Through Screening Foundation / Newborn Screening Task Force / Online Resources Sponsoring Agency / Committee on Genetics / Department of Pediatrics / CPT IA / Maternal and Child Health Bureau / United Nations / Services Administration / National Newborn Screening and Genetics Research Center / American Academy of Pediatrics / University of Wisconsin / /

Person

Robert Guthrie / Carol Rees Parrish / Barbara Goodin / Barry Wolf / Ding J. Mitochondrial / Wolf B. Disorders / Ross Metabolics / S. Ross Metabolic / /

Position

care physician / physician / advocate / local physician / King / Nutrition Specialist / Series Editor / Hb / pediatrician / /

ProvinceOrState

Minnesota / Virginia / Wisconsin / /

Technology

state protocol / using MS/MS technology / UDP / /

URL

http /

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