Inborn error of metabolism

Results: 125



#Item
21Biology / Genetics / Rare diseases / Epidemiology / Orphanet / Genetic disorder / Inborn error of metabolism / Health / Medical genetics / Medicine

September[removed]LINEARIZATION RULES FOR ORPHANET CLASSIFICATIONS Procedural document

Add to Reading List

Source URL: www.orpha.net

Language: English - Date: 2014-10-14 08:15:01
22Rare Disease Day / National Institutes of Health / Medical terms / Rare diseases / European Organization for Rare Diseases / Disease / Inborn error of metabolism / Orphan drug / Health / Medicine / Epidemiology

RARE DISEASE DAY RARE DISEASE DAY 2015: FREQUENTLY ASKED QUESTIONS What is a rare disease? In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans. Some other countries

Add to Reading List

Source URL: rarediseaseday.us

Language: English - Date: 2014-11-04 12:09:51
23Medical genetics / Nutricia North America / Glutaric aciduria type 1 / Glutaric acidemia type 2 / Maple syrup urine disease / Isovaleric acidemia / Phenylketonuria / Inborn error of metabolism / Numico / Health / Medicine / Rare diseases

VI. Metabolic Formulas Formulas for WIC participants with metabolic conditions are available according to physician prescription. All metabolic formulas must be prescribed by a licensed health care provider prior to issu

Add to Reading List

Source URL: www.maine.gov

Language: English - Date: 2014-10-02 08:03:50
24Newborn screening / Congenital adrenal hyperplasia / Galactosemia / Phenylketonuria / Biotinidase deficiency / Congenital hypothyroidism / 3-Methylcrotonyl-CoA carboxylase deficiency / Inborn error of metabolism / 2-Methylbutyryl-CoA dehydrogenase deficiency / Health / Medicine / Pediatrics

Title 15 - Mississippi Department of Health

Add to Reading List

Source URL: www.msdh.state.ms.us

Language: English - Date: 2014-03-27 09:48:48
25Newborn screening / Propionic acidemia / Isovaleric acidemia / Methylmalonic acidemia / Carnitine palmitoyltransferase I / Galactosemia / Carnitine / Organic acidemia / Inborn error of metabolism / Health / Rare diseases / Medicine

PDF Document

Add to Reading List

Source URL: www.city.sapporo.jp

Language: English - Date: 2014-03-10 22:00:22
26Pediatrics / Cancer research / Clinical research / Medical genetics / Metabolism / Inborn error of metabolism / Urea cycle disorder / Pathology / Newborn screening / Medicine / Health / Medical specialties

Microsoft Word - CCMG Clinical BG Guidelines 2014

Add to Reading List

Source URL: www.ccmg-ccgm.org

Language: English - Date: 2014-10-05 15:55:39
27Rare diseases / Medical genetics / Epidemiology / Newborn screening / Inborn error of metabolism / Screening / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Genetic counseling / Guthrie test / Medicine / Health / Pediatrics

Public Comments to the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

Add to Reading List

Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:29
28Pediatrics / Lipid storage disorders / Medical genetics / Lysosomal storage disease / Newborn screening / Inborn error of metabolism / Genetic disorder / Cystic fibrosis / Enzyme replacement therapy / Health / Medicine / Rare diseases

Microsoft Word - Document1

Add to Reading List

Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:21
29Newborn screening / Guthrie test / Galactosemia / Congenital adrenal hyperplasia / Phenylketonuria / Sickle-cell disease / Screening / Maple syrup urine disease / Inborn error of metabolism / Health / Medicine / Pediatrics

The Impact of Specific Medical Interventions on Reducing the Incidence of Mental Retardation

Add to Reading List

Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:12:54
30Fatty acids / Metabolism / Pediatrics / Inborn error of lipid metabolism / Rare diseases / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Newborn screening / Carnitine / Health / Medicine / Biology

Death Caused by Perioperative Fasting and Sedation in a Child with Unrecognized VLCAD Charles R. Roe, MD, Hobart E. Wiltse, MD, PhD Lawrence Sweetman, PhD, and Linda L Alvarado, BS Abstract An adopted[removed]year-old girl

Add to Reading List

Source URL: www.fodsupport.org

Language: English - Date: 2012-05-31 13:41:07
UPDATE