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Differential Diagnosis For Enzyme Assay plasma/tissue/fibroblast abnormal

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List of current finding(s):

Allergic, Collagen, Auto-Immune Disorders
Reyes syndrome
Metabolic, Storage Disorders
Enzyme defect/deficiency disorders
Erythrocyte glycolytic enzyme defect
Primary lactic acidemia/children
Glucose 6 PD deficiency
Hyperbilirubinemia, primary shunt, fam.
Metabolic disorders
Porphyria, acute intermittent
Rotor syndrome
Tay-Sachs disease
Coproporphyria erythrohepatica
Carnitine/Acylcarnitine translocase deficiency
Citrullinemia/Argininsuccinicaciduria
Combined carboxylase/Biotinidase deficiency
Cytochrome C Oxidase Deficiency/COX Complex Defect
French-Canadian type COX mitochondrial defect
Hydroxymethylglutaryl CoA lyase deficiency
HyperArgininemia
Ketothiolase deficiency
Methyl crotonyl CoA carboxylase deficiency
Methylmalonic acidemia/ketotic glycine
Molybdenum cofactor deficency
Propionicacidemia/ketotic glycinemia
Pyroglutamic acidemia
Pyruvate Dehydrogenase Complex Deficiency/PDCD
Infantile mitochondrial myopathy/Cox defect
Acyl-CoA Dehydrogenase/short chain def
Alphamethylacetoacetate accumulation
Anemia due to glutathione metab def
Beta-hydroxyisolvaleric acidemia
Crigler-Najjar syndrome
Embden-Meyerhof RBC membrane defects
Fabrys disease/Angiokeratatosis (trihexose ceramide)
HMG-CoA lyase deficiency
Hyperglycinemia, nonketotic
LCHAD/Long chain OH-CoA dehydrogenase def
MCAD/Medium chain OH-CoA Dehydrogenase def
Ornithinemia
RBC membrane enzyme defects
Sialidosis/Cherry Red Spot Myoclonus
Tyrosinemia, hereditary
VLCHAD/Very Long chain OH-CoA dehydrogenase def
Carnitine palmityltranferase deficiency
Citrullinuria
Dihydrofolate reductase deficiency
Erythrocyte nucleotide metabolism def't
Fructose intolerance, hereditary
Fucosidosis (Anderson-Fabry)
Galactosemia
Gangliosidosis, generalized (GM1)
Gaucher's disease
Glutaric aciduria/Acidemia
Hepatoerythropoetic porphyria
Hexokinase deficiency RBC's
Histidinemia
Homocystinuria/homocystinemia
Leukodystrophy/Arylsufatase deficiency
Maple syrup urine disease
Niemann-Pick disease
Phosphofructokinase def/GSD VII (Tarui)
Urea cycle/metabolic disorder
Fatty acid oxidation/metabolic syndromes
Unclassified fatty oxidation syndromes (U-FAOD)
Deficiency Disorders
Folic acid dependency/metabolic defect
Hereditary, Familial, Genetic Disorders
Granulomatous dis/childhood, chronic
Pyruvate kinase deficiency RBC's
Nephritis, hereditary (Alports)
Fechtner syndrome/FTNS (22q11.2)
Zellweger Cerebrhepatorenal syndrome
Acatalasia
Drugs
Carnitine/L-Carnitine supplement/intake
Synonyms
Abnormal, Blood Plasma, Blood plasma (product), Blood Plasmas, EMIT, EMIT assay, Enzyme Multiplied Immunoassay Technique, Enzyme-multiplied immunoassay technique, Enzyme-multiplied immunoassay technique (procedure), Fib, Fibroblast, Fibroblast (cell), Fibroblasts, Plasma, Plasma (Blood), Plasma (substance), Plasma Blood, Plasmas, Plasmas Blood
Definition
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External Links Related to Enzyme Assay plasma/tissue/fibroblast abnormal
Google
Wikipedia
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Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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