Online
|
Download
|
Store
|
Contact
|
About

The Electronic Protocol Book Table of contents BioToolKit 300 Download Trials
     An electronic protocol book with 500 protocols and 100 recipes. A great quick and practical reference for bench scientists as well as for new students.   Get A Copy      A collection of tools frequently used by bench biomedical scientists, ranging from centrifugation force conversion, molecular weight, OD, recipe calculators, to clinical calculators. Include all Primo 3.4, Abie 3.0, Heatmap Viewer, MicroHelper, Godlist Manager, label printing, and grade book.   More info

Enzymes  A-Z A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Diseases

Google
  Web ChangBioscience.com   
(R)-3-amino-2-methylpropionate--pyruvate transaminase: Hyper-beta-aminoisobutyricaciduria; MIN:210100.
1,4-alpha-glucan branching enzyme: Glycogen storage disease IV; MIN:232500.
1-pyrroline-5-carboxylate dehydrogenase: Hyperprolinemia II; MIN:239510.
11-beta-hydroxysteroid dehydrogenase: Apparent mineralocorticoid excess (AME), type 1; MIN:218030.
2-acetyl-1-alkylglycerophosphocholine esterase: Platelet-activating factor acetylhydrolase deficiency; MIN:601690.
3',5'-cyclic-nucleotide phosphodiesterase: Congenital stationary night blindness, CSNB3; MIN:163500.
3-beta-hydroxy-delta(5)-steroid dehydrogenase: Adrenal hyperplasia II; MIN:201810.
3-hydroxyacyl-CoA dehydrogenase: Peroxisomal bifunctional enzyme deficiency; MIN:261515.
3-hydroxyisobutyrate dehydrogenase: 3-hydroxyisobutyricaciduria; MIN:236795.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring): Maple syrup urine disease; MIN:248600.
3-oxo-5-alpha-steroid 4-dehydrogenase: Male pseudohermaphroditism (pseudovaginal perineoscrotal); MIN:264600.
3-oxo-5-beta-steroid 4-dehydrogenase: Neonatal cholestatic hepatitis; MIN:235555.
3-oxoacid CoA-transferase: Infantile ketoacidosis; MIN:245050.
4-alpha-glucanotransferase: Glycogen storage disease III; MIN:232400.
4-aminobutyrate transaminase: GABA-transaminase deficiency; MIN:137150.
4-hydroxyphenylpyruvate dioxygenase: Tyrosinemia, type III; MIN:276710.
4-oxoproline reductase: Hydroxyprolinemia; MIN:237000.
4a-hydroxytetrahydrobiopterin dehydratase: Hyperphenylalaninemia with primapterinuria; MIN:264070.
5-aminolevulinic acid synthase: X-linked sideroblastic anemia (XLSA); MIN:301300.
6,7-dihydropteridine reductase: Phenylketonuria II; MIN:261630.
6-phosphofructokinase: Glycogen storage disease VII; MIN:232800.
6-pyruvoyltetrahydropterin synthase: Hyperphenylalaninemia (HPA); MIN:261640.
7-dehydrocholesterol reductase: Smith-Lemli-Opitz syndrome; MIN:270400.
AMP deaminase: Myopathy due to AMPD deficiency; MIN:102770.
Acetyl-CoA C-acetyltransferase: Alpha-methylacetoaceticaciduria; MIN:203750.
Acid phosphatase: Acid phosphatase deficiency; MIN:200950.
Acyl-CoA dehydrogenase: Medium-chain acyl-CoA dehydrogenase deficiency; MIN:201450.
Acyl-CoA oxidase: Pseudoneonatal adrenoleukodystrophy; MIN:264470.
Adenine phosphoribosyltransferase: Urolithiasis, 2,8-dihydroxyadenine; MIN:102600.
Adenosine deaminase: Severe combined immunodeficiency (SCID); MIN:102700.
Adenosylhomocysteinase: Hypermethioninemia; MIN:180960.
Adenylate kinase: Hemolytic anemia due to deficiency of adenylate kinase; MIN:103000.
Adenylosuccinate lyase: Succinylpurinemic autism; MIN:103050.
Adenylylsulfate kinase: Spondyloepimetaphyseal dysplasia Pakistani type (SEMD); MIN:603005.
Alanine--glyoxylate transaminase: Oxalosis I (glycolicaciduria); MIN:259900.
Aldehyde dehydrogenase (NAD+): Acute alcohol intolerance; MIN:100650.
Alkaline phosphatase: Hypophosphatasia, adult; MIN:146300.
Alkylglycerone-phosphate synthase: Alkylglycerone-phosphate synthase deficiency; MIN:600121.
Alpha-L-fucosidase: Fucosidosis; MIN:230000.
Alpha-N-acetylgalactosaminidase: Schindler disease; MIN:104170.
Alpha-N-acetylglucosaminidase: Mucopolysaccharidosis IIIB; MIN:252920.
Alpha-galactosidase: Diffuse angiokeratoma (Fabry disease); MIN:301500.
Alpha-glucosidase: Glycogen storage disease II; MIN:232300.
Alpha-mannosidase: Mannosidosis; MIN:248500.
Alpha-methylacyl-CoA racemase: Alpha-methylacyl-CoA racemase deficiency; MIN:604489.
Amine oxidase (flavin-containing): Brunner Syndrome; MIN:309850.
Aminomethyltransferase: Nonketotic hyperglycinemia (NKH); MIN:605899.
Amylo-alpha-1,6-glucosidase: Glycogen storage disease III; MIN:232400.
Arginase: Argininemia; MIN:207800.
Argininosuccinate lyase: Argininosuccinicaciduria; MIN:207900.
Argininosuccinate synthase: Citrullinemia; MIN:215700.
Aspartoacylase: Canavan disease; MIN:271900.
Beta-N-acetylhexosaminidase: Sandhoff disease (GM2-gangliosidosis, variant 0); MIN:268800.
Beta-galactosidase: Gangliosidosis, generalized GM1, type I; MIN:230500.
Beta-glucuronidase: Mucopolysaccharidosis VII; MIN:253220.
Beta-mannosidase: Beta-mannosidosis (MANB1); MIN:248510.
Biotin--[acetyl-CoA-carboxylase] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotin--[methylcrotonoyl-CoA-carboxylase] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotin--[methylmalonyl-CoA-carboxytransferase] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotin--[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotinidase: Multiple carboxylase deficiency, late onset; MIN:253260.
Bisphosphoglycerate mutase: Hemolytic anemia due to diphosphoglycerate mutase deficiency; MIN:222800.
Bisphosphoglycerate phosphatase: Myopathy due to phosphoglycerate mutase deficiency; MIN:261670.
Butyryl-CoA dehydrogenase: Short-chain acyl-CoA dehydrogenase deficiency; MIN:201470.
Calcidiol 1-monooxygenase: Vitamin-D-dependent rickets type I; MIN:264700.
Calcium-transporting ATPase: Darier disease; MIN:124200.
Carbamoyl-phosphate synthase (ammonia): Carbomoylphosphate synthetase (CPS) deficiency; MIN:237300.
Carbonate dehydratase: Osteopetrosis-renal tubular acidosis syndrome; MIN:259730.
Carboxypeptidase C: Galactosialidosis; MIN:256540.
Carnitine O-palmitoyltransferase: Lipid myopathy due to deficiency of CPT I; MIN:255120.
Catalase: Acatalasia; MIN:115500.
Cathepsin K: Pyknodysostosis, PKND; MIN:265800.
Ceramidase: Farber lipogranulomatosis; MIN:228000.
Cerebroside-sulfatase: Metachromatic leukodystrophy; MIN:250100.
Channel-conductance-controlling ATPase: Cystic fibrosis; MIN:219700.
Cholestenol delta-isomerase: X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2); MIN:302960.
Choline O-acetyltransferase: Familial infantile myasthenia gravis, FIMG2; MIN:254210.
Cholinesterase: Drug induced (postanesthetic) apnea; MIN:177400.
Classical-complement pathway C3/C5 convertase: Complement component C2 deficiency; MIN:217000.
Coagulation factor IXa: Hemophilia B; MIN:306900.
Coagulation factor VIIa: Factor VII deficiency; MIN:227500.
Coagulation factor XIIa: Factor XII deficiency; MIN:234000.
Coagulation factor XIa: Factor XI deficiency; MIN:264900.
Coagulation factor Xa: Factor X deficiency; MIN:227600.
Cob(I)yrinic acid a,c-diamide adenosyltransferase: Methylmalonicaciduria, cblB complementation type; MIN:251110.
Complement component C1r: Complement component C1r deficiency; MIN:216950.
Complement component C1s: Complement component C1s deficiency; MIN:120580.
Copper-exporting ATPase: Menkes syndrome; MIN:309400.
Coproporphyrinogen oxidase: Coproporphyria; MIN:121300.
Corticosterone 18-monooxygenase: Aldosterone deficiency I; MIN:203400.
Cystathionine beta-synthase: Homocystinuria I (classic form); MIN:236200.
Cystathionine gamma-lyase: Cystathioninuria; MIN:219500.
Cytidine deaminase: Autosomal recessive hyper-IgM immunodeficiency (HIGM2); MIN:605258.
Cytochrome-b5 reductase: Methemoglobinemia enzymopathic forms I, II, III; MIN:250800.
Cytochrome-c oxidase: Cytochrome-c-oxidase deficiency; MIN:220110.
DNA ligase (ATP): LIG4 syndrome; MIN:606593.
DNA topoisomerase (ATP-hydrolyzing): Ataxia-telangiectasia; MIN:208900.
DNA-directed DNA polymerase: PEO with mitochondrial DNA deletions; MIN:157640.
Dihydrolipoyl dehydrogenanse: Congenital infantile lactic acidosis; MIN:246900.
Dihydrolipoyllysine-residue acetyltransferase: Primary biliary cirrhosis (PBC); MIN:109720.
Dihydrolipoyllysine-residue succinyltransferase: Maple syrup urine disease type II; MIN:248610.
Dihydropyrimidinase: Dihydropyrimidinase deficiency; MIN:222748.
Dihydropyrimidine dehydrogenase (NADP+): Pyrimidinemia; MIN:274270.
Dimethylaniline monooxygenase (N-oxide forming): Trimethylaminuria; MIN:602079.
Dimethylglycine dehydrogenase: Dimethylglycine dehydrogenase deficiency; MIN:605850.
Dipeptidyl-peptidase I: Papillon-Lefevre syndrome, PALS; MIN:245000.
Dodecenoyl-CoA delta-isomerase: Trifunctional protein deficiency, type 2; MIN:607037.
Dolichyl-phosphate beta-D-mannosyltransferase: Congenital disorder of glycosylation type IE (CDG-IE); MIN:603503.
Dolichyl-phosphate-mannose--protein mannosyltransferase: Walker-Warbug syndrome; MIN:236670.
Electron-transferring-flavoprotein dehydrogenase: Glutaricaciduria IIA; MIN:231680.
Enoyl-CoA hydratase: Trifunctional protein deficiency, type 2; MIN:607037.
Enteropeptidase: Enterokinase deficiency; MIN:226200.
Estradiol 17 beta-dehydrogenase: Male pseudohermaphroditism; MIN:264300.
Ethanolamine kinase: Ethanolaminosis; MIN:227150.
Exo-alpha-sialidase: Sialidosis; MIN:256550.
FAD diphosphatase: Inosine triphosphate pyrophosphohydrolase deficiency; MIN:147520.
Fatty-acyl-CoA-transporting ATPase: Zellweger syndrome; MIM: 214100.
Ferrochelatase: Protoporphyria; MIN:177000.
Ferroxidase: Aceruloplasminemia; MIN:604290.
Formate--tetrahydrofolate ligase: Methyltetrahydrofolate cyclohydrolase deficiency; MIN:172460.
Fructose-bisphosphatase: Fructose-1,6-bisphosphatase deficiency; MIN:229700.
Fructose-bisphosphate aldolase: Hemolytic anemia due to aldolase A deficiency; MIN:103850.
Fumarate hydratase: Fumarase deficiency; MIN:606812.
Fumarylacetoacetase: Tyrosinemia I; MIN:276700.
Galactokinase: Galactokinase deficiency; MIN:230200.
Galactosylceramidase: Globoid cell leukodystrophy (GLD); MIN:245200.
Gamma-glutamyltransferase: Glutathionuria; MIN:231950.
Glucose-6-phosphatase: Glycogen storage disease Ia; MIN:232200.
Glucose-6-phosphate 1-dehydrogenase: Hemolytic anemia due to G6PD deficiency; MIN:305900.
Glucose-6-phosphate isomerase: Hemolytic anemia due to phosphoglucose isomerase deficiency; MIN:172400.
Glucosylceramidase: Gaucher disease type I; MIN:230800.
Glutamate decarboxylase: Pyridoxine-dependent infantile convulsions; MIN:266100.
Glutamate dehydrogenase (NAD(P)+): Hyperinsulinism-hyperammonemia syndrome (HHS); MIN:606762.
Glutamate formimidoyltransferase: Formiminotransferase deficiency (figluuria); MIN:229100.
Glutamate--cysteine ligase: Hemolytic anemia due to gamma-glutamylcysteine synthetase; MIN:230450.
Glutaryl-CoA dehydrogenase: Glutaricaciduria I; MIN:231670.
Glutathione peroxidase: Hemolytic anemia due to glutathione peroxidase deficiency; MIN:138320.
Glutathione synthase: Hemolytic anemia due to glutathione synthetase deficiency; MIN:231900.
Glutathione-disulfide reductase: Hemolytic anemia due to glutathione reductase deficiency; MIN:138300.
Glycerate dehydrogenase: Oxalosis II (glycericaciduria); MIN:260000.
Glycerol kinase: Hyperglycerolemia; MIN:307030.
Glycerone-phosphate O-acyltransferase: Rhizomelic chondrodysplasia punctata, type 2 (RCDP2); MIN:222765.
Glycine N-methyltransferase: Hypermethioninemia; MIN:606664.
Glycine dehydrogenase (decarboxylating): Nonketotic hyperglycinemia (NKH); MIN:605899.
Glycogen (starch) synthase: Glycogen storage disease 0; MIN:240600.
Glycosylceramidase: Disaccharide intolerance II; MIN:223000.
Guanidinoacetate N-methyltransferase: Guanidinoacetate methyltransferase deficiency; MIN:601240.
Guanylate cyclase: Leber congenital amaurosis type 1 (LCA1); MIN:204000.
H(+)-transporting two-sector ATPase: Neuropathy, ataxia, and retinitis pigmentosa; MIN:551500.
Hexokinase: Hemolytic anemia due to hexokinase deficiency; MIN:235700.
Histidine ammonia-lyase: Histidinemia; MIN:235800.
Histone acetyltransferase: Rubinstein-Taybi syndrome; MIN:180849.
Homogentisate 1,2-dioxygenase: Alkaptonuria; MIN:203500.
Hydroxyacylglutathione hydrolase: Glyoxalase II deficiency; MIN:138760.
Hydroxymethylbilane synthase: Acute intermittent porphyria; MIN:176000.
Hydroxymethylglutaryl-CoA lyase: HMG-CoA lyase deficiency; MIN:246450.
Hypoxanthine phosphoribosyltransferase: Lesch-Nyhan syndrome; MIN:300322.
Iduronate-2-sulfatase: Mucopolysaccharidosis II; MIN:309900.
Interstitial collagenase: Recessive epidermolysis bullosa dystrophia; MIN:226600.
Iodide peroxidase: Defect in thyroid hormonogenesis II; MIN:274500.
Isovaleryl-CoA dehydrogenase: Isovalericacidemia; MIN:243500.
Ketohexokinase: Fructosuria; MIN:229800.
Kynureninase: Xanthurenicaciduria; MIN:278600.
L-iditol 2-dehydrogenase: Sorbitol dehydrogenase deficiency; MIN:182500.
L-iduronidase: Mucopolysaccharidosis I; MIN:252800.
L-lactate dehydrogenase: Exertional myoglobinuria; MIN:150000.
L-lysine oxidase: Lysine intolerance; MIN:247900.
L-xylulose reductase: Pentosuria; MIN:260800.
Lactase: Disaccharide intolerance II; MIN:223000.
Lathosterol oxidase: Lathosterolosis; MIN:607330.
Leukocyte elastase: Cyclic hematopoiesis; MIN:162800.
Lipoprotein lipase: Hyperlipoproteinemia type IA; MIN:238600.
Long-chain acyl-CoA dehydrogenase: Long-chain acyl-CoA dehydrogenase deficiency; MIN:201460.
Long-chain-3-hydroxyacyl-CoA dehydrogenase: Maternal acute fatty liver of pregnancy (AFLP); MIN:600890.
Long-chain-fatty-acid--CoA ligase: Non-specific X-linked mental redardation type 63 (MRX63); MIN:300387.
Lysine(arginine) carboxypeptidase: Episodic angioedema; MIN:212070.
Lysozyme: Familial visceral amyloidosis; MIN:105200.
Magnesium-ATPase: Progressive familial intrahepatic cholestasis; MIN:211600.
Malonyl-CoA decarboxylase: Malonyl-CoA decarboxylase deficiency; MIN:248360.
Mannose-6-phosphate isomerase: Congenital disorder of glycosylation type IB (CDG-IB); MIN:602579.
Methenyltetrahydrofolate cyclohydrolase: Methyltetrahydrofolate cyclohydrolase deficiency; MIN:172460.
Methionine adenosyltransferase: Hypermethioninemia due to methionine adenosyltransferase; MIN:250850.
Methionine synthase: Methylcobalamin deficiency type G (CBLG); MIN:250940.
Methylcrotonyl-CoA carboxylase: Beta-methylcrotonylglycinuria type I; MIN:210200.
Methylenetetrahydrofolate dehydrogenase (NADP+): Methyltetrahydrofolate cyclohydrolase deficiency; MIN:172460.
Methylenetetrahydrofolate reductase (NADPH): Homocystinuria II (MTHFR deficiency); MIN:236250.
Methylglutaconyl-CoA hydratase: 3-methylglutaconicaciduria; MIN:250950.
Methylmalonate-semialdehyde dehydrogenase (acylating): Methylmalonate semialdehyde dehydrogenase deficiency; MIN:603178.
Methylmalonyl-CoA mutase: Methylmalonicaciduria I (B12-unresponsive); MIN:251000.
Mevalonate kinase: Mevalonicaciduria; MIN:251170.
Monophenol monooxygenase: Culocutaneous albinism, type I (OCA1); MIN:203100.
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase: Aspartylglucosaminuria; MIN:208400.
N-acetylgalactosamine-4-sulfatase: Mucopolysaccharidosis VI; MIN:253200.
N-acetylgalactosamine-6-sulfatase: Mucopolysaccharidosis IVA; MIN:253000.
N-acetylglucosamine-6-sulfatase: Mucopolysaccharidosis IIID; MIN:252940.
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase: Hereditary multiple exostoses type I (EXT1); MIN:133700.
N-acylmannosamine kinase: Inclusion body myopathy 2 (IBM2); MIN:600737.
N-sulfoglucosamine sulfohydrolase: Mucopolysaccharidosis IIIA; MIN:252900.
NADH dehydrogenase (ubiquinone): Leber hereditary optic neuropathy (LHON); MIN:535000.
Oligosaccharide alpha-1,6-glucosidase: Disaccharide intolerance I; MIN:222900.
Ornithine carbamoyltransferase: Ornithine transcarbamylase deficiency; MIN:311250.
Ornithine--oxo-acid transaminase: Ornithinemia with gyrate atrophy of choroid and retina; MIN:258870.
Orotate phosphoribosyltransferase: Oroticaciduria I; MIN:258900.
Orotidine-5'-phosphate decarboxylase: Oroticaciduria II; MIN:258920.
Palmitoyl-protein hydrolase: Infantile neuronal ceroid lipofuscinosis 1 (CLN1); MIN:256730.
Pantothenate kinase: Pantothenate kinase-associated neurodegeneration (PKAN); MIN:234200.
Peroxidase: Myeloperoxidase deficiency with disseminated candidiasis; MIN:254600.
Phenylalanine 4-monooxygenase: Phenylketonuria; MIN:261600.
Phosphatidylcholine--sterol O-acyltransferase: Norum disease; MIN:245900.
Phosphatidylinositol N-acetylglucosaminyltransferase: Paroxysmal nocturnal hemoglobinuria; MIN:311770.
Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase: Juvenile intestinal polyposis; MIN:174900.
Phosphodiesterase I: Ossification of the posterior longitudinal ligament of spine; MIN:602475.
Phosphoenolpyruvate carboxykinase (GTP): PEPCK deficiency; MIN:261650.
Phosphogluconate dehydrogenase (decarboxylating): 6-phosphogluconate dehydrogenase deficiency; MIN:172200.
Phosphoglycerate dehydrogenase: 3-phosphoglycerate dehydrogenase deficiency; MIN:601815.
Phosphoglycerate kinase: Hemolytic anemia due to phosphoglycerate kinase deficiency; MIN:311800.
Phosphoglycerate mutase: Myopathy due to phosphoglycerate mutase deficiency; MIN:261670.
Phosphoinositide 5-phosphatase: Lowe oculocerebrorenal syndrome; MIN:309000.
Phosphomannomutase: Congenital disorder of glycosylation type IA (CDG-IA); MIN:212065.
Phosphorylase: Glycogen storage disease V; MIN:232600.
Phosphorylase kinase: Glycogen storage disease VIII; MIN:306000.
Phytanoyl-CoA dioxygenase: Refsum disease; MIN:266500.
Plasma kallikrein: Prekallikrein deficiency (PKK); MIN:229000.
Plasmin: Thrombophilia; MIN:188050.
Porphobilinogen synthase: Acute hepatic porphyria; MIN:125270.
Procollagen N-endopeptidase: Ehlers-Danlos syndrome, type VII; MIN:225410.
Procollagen glucosyltransferase: Epidermolysis bullosa with deficiency of EC 2.4.1.66; MIN:131880.
Procollagen-lysine 5-dioxygenase: Ehlers-Danlos syndrome, type VI; MIN:225400.
Propionyl-CoA carboxylase: Propionicacidemia; MIN:606054.
Protein C (activated): Protein C deficiency; MIN:176860.
Protein-glutamine gamma-glutamyltransferase: Autosomal recessive lamellar ichthyosis (LI); MIN:242300.
Protoporphyrinogen oxidase: Porphyria variegata; MIN:176200.
Purine-nucleoside phosphorylase: T-cell immunodeficiency with neurologic disorder; MIN:164050.
Pyrimidine-5'-nucleotide nucleosidase: Hemolytic anemia due to EC 3.2.2.10 deficiency; MIN:266120.
Pyruvate carboxylase: Pyruvate carboxylase deficiency; MIN:266150.
Pyruvate dehydrogenase (acetyl-transferring): Ataxia with lactic acidosis I; MIN:208800.
Pyruvate kinase: Hemolytic anemia due to pyruvate kinase deficiency; MIN:266200.
Retinol dehydrogenase: Fundus albipunctatus; MIN:136800.
Rhodopsin kinase: Oguchi disease-2; MIN:258100.
Ribose-phosphate diphosphokinase: Gout (one form) with urate urolithiasis; MIN:311850.
Saccharopine dehydrogenase (NAD+, L-lysine forming): Saccharopinuria; MIN:268700.
Sarcosine dehydrogenase: Sarcosinemia; MIN:268900.
Sepiapterin reductase: Sepiapterin reductase deficiency; MIN:182125.
Serine C-palmitoyltransferase: Hereditary sensory neuropathy type 1 (HSN1); MIN:162400.
Sphingomyelin phosphodiesterase: Niemann-Pick disease, type A; MIN:257200.
Steroid 11-beta-monooxygenase: Adrenal hyperplasia IV; MIN:202010.
Steroid 17-alpha-monooxygenase: Adrenal hyperplasia V; MIN:202110.
Steroid 21-monooxygenase: Adrenal hyperplasia III; MIN:201910.
Sterol esterase: Wolan disease; MIN:278000.
Steryl-sulfatase: X-linked ichthyosis; MIN:308100.
Succinate-semialdehyde dehydrogenase: 4-hydroxybutyricaciduria; MIN:271980.
Sucrose alpha-glucosidase: Disaccharide intolerance I; MIN:222900.
Sulfite oxidase: Sulfite oxidase deficiency; MIN:272300.
Superoxide dismutase: Amyotrophic lateral sclerosis 1 (ALS1); MIN:105400.
T-plasminogen activator: Familial hyperfibrinolysis; MIN:173370.
Thrombin: Prothrombin deficiency; MIN:176930.
Thromboxane-A synthase: Hemorrhagic diathesis due to deficiency of thromboxane; MIN:274180.
Thymidine phosphorylase: Mitochondrial neurogastrointestinal encephalomyopathy; MIN:603041.
Transaldolase: Transaldolase deficiency; MIN:606003.
Transketolase: Wernicke-Korsakoff syndrome; MIN:277730.
Triacylglycerol lipase: Hepatic lipase deficiency; MIN:151670.
Triosephosphate isomerase: Hemolytic anemia due to triosephosphate isomerase deficiency; MIN:190450.
Tripeptidyl-peptidase I: Classical late-infantile neuronal ceroid lipofuscinosis; MIN:204500.
Trypsin: Hereditary pancreatitis (HPC); MIN:167800.
Tyrosine 3-monooxygenase: Autosomal recessive Segawa syndrome; MIN:605407.
Tyrosine transaminase: Tyrosinemia II (Richner-Hanhart syndrome); MIN:276600.
UDP-N-acetylglucosamine 2-epimerase: Sialuria; MIN:269921.
UDP-glucose 4-epimerase: Galactose epimerase deficiency; MIN:230350.
UDP-glucose--hexose-1-phosphate uridylyltransferase: Galactosemia; MIN:230400.
UDP-glucuronosyltransferase: Hyperbilirubinemia I (Gilbert syndrome); MIN:143500.
Uridine kinase: Immunodeficiency disease; MIN:191710.
Uroporphyrinogen decarboxylase: Porphyria cutanea tarda; MIN:176090.
Uroporphyrinogen-III synthase: Congenital erythropoietic porphyria (CEP); MIN:263700.
Valine--3-methyl-2-oxovalerate transaminase: Valinemia; MIN:277100.
Xaa-His dipeptidase: Carnosinemia; MIN:212200.
Xaa-Pro dipeptidase: Prolidase deficiency; MIN:170100.
Xanthine dehydrogenase: Xanthinuria; MIN:278300.
Xanthine oxidase: Xanthinuria; MIN:278300.
Xylan 1,4-beta-xylosidase: Xylosidase deficiency; MIN:278900.
Xylosylprotein 4-beta-galactosyltransferase: Ehlers-Danlos syndrome, progeroid form; MIN:130070.

Medical Models

Click me!

Books

Copyright © 2002-2004 Chang Bioscience, Inc. All rights reserved.