Jebediah
A 4-day old male newborn is experiencing vomiting, lethargy, poor feeding, and seizures.
Showing all 127 results
| Tests | Category | Points | |
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108-J / Vitals and Physical Exam
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10 Points
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109-J / Liver biopsy
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50 Points
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110-J / Muscle biopsy
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50 Points
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111-J / Fasting blood glucose
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10 Points
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112-J / Blood pH
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10 Points
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113-J / Lactate
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10 Points
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114-J / Acetoacetate
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10 Points
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115-J / 3-hydroxybutyrate
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10 Points
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116-J / Ammonia
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10 Points
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117-J / Uric acid
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10 Points
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118-J / Lipid panel
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70 Points
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119-J / Cholesterol
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10 Points
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120-J / Triglycerides
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10 Points
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121-J / VLDL
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20 Points
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122-J / LDL
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10 Points
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123-J / HDL
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10 Points
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124-J / Chylomicrons
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20 Points
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125-J / Acylcarnitine profile
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40 Points
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131-J / Amino acid profile
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25 Points
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132-J / Urine purines and pyrimidines
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25 Points
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133-J / Liver enzymes (AST and ALT)
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25 Points
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134-J / Creatine kinase
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25 Points
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135-J / B1 (Thiamine)
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20 Points
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136-J / B2 (Riboflavin)
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20 Points
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137-J / B3 (Niacin)
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20 Points
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138-J / B5 (Pantothenic Acid)
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20 Points
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139-J / B6 (Pyridoxine)
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20 Points
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140-J / B7 (Biotin)
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20 Points
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141-J / B9 (Folate)
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20 Points
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142-J / B12 (Cobalamin)
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20 Points
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143-J / Basic Urinanalysis - qualitative
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20 Points
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144-J / Urine glucose
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10 Points
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145-J / Urine RBC
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10 Points
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146-J / Urine ketones
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10 Points
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147-J / Consult service
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100 Points
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148-J / Metabolite
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20 Points
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149-J / Glucose-6-phosphatase
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50 Points
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150-J / Muscle glycogen phosphorylase
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50 Points
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151-J / Liver glycogen phosphorylase
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50 Points
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152-J / Glycogen synthase
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50 Points
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153-J / Branching Enzyme
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50 Points
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154-J / Debranching Enzyme
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50 Points
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155-J / Hexokinase
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50 Points
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156-J / Glucokinase
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50 Points
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157-J / Phosphofructokinase 1
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50 Points
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158-J / Phosphofructokinase 2
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50 Points
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159-J / Pyruvate kinase
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50 Points
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160-J / Transaldolase
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50 Points
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161-J / Transketolase
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50 Points
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162-J / Enolase
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50 Points
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163-J / PEPCK
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50 Points
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164-J / Glucose-6-Phosphate dehydrogenase
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50 Points
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165-J / 6-Phosphogluconate dehydrogenase
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50 Points
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166-J / Fructose-1-6 bisphosphatase
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50 Points
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167-J / Pyruvate dehydrogenase
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50 Points
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168-J / Isocitrate dehydrogenase
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50 Points
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169-J / Succinate dehydrogenase
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50 Points
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170-J / a-Ketoglutarate dehydrogenase
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50 Points
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171-J / Mitochondrial electron transport proteins
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50 Points
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172-J / Apo E
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50 Points
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173-J / Apo A1
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50 Points
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174-J / Apo C2
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50 Points
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175-J / ABCA1 transporter
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50 Points
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176-J / LDL Receptor
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50 Points
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177-J / Lipoprotein lipase
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50 Points
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178-J / Hormone sensitive lipase
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50 Points
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179-J / HMG-CoA synthase
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50 Points
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180-J / HMG-CoA lyase
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50 Points
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181-J / 3-Hydroxybutyrate dehydrogenase
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50 Points
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182-J / SCOT (Succinyl-CoA:acetoacetate transferase)
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50 Points
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183-J / CPT1 (Carnitine palmitoyltransferase 1)
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50 Points
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184-J / CPT2 (Carnitine palmitoyltransferase 2)
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50 Points
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185-J / VLCAD (Very long chain acyl dehydrogenase) >C14
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50 Points
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187-J / MCAD (Medium chain acyl dehydrogenase) C6-C8
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50 Points
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188-J / Propionyl CoA carboxylase
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50 Points
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189-J / Methylmalonyl CoA mutase
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50 Points
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190-J / Acteyl-CoA carboxylase
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50 Points
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191-J / Fatty Acid Synthase
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50 Points
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192-J / Citrate lyase
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50 Points
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193-J / Hemoglobin A1C
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50 Points
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194-J / ATP-gated K channel
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50 Points
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195-J / Glut 1 transporter
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50 Points
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196-J / Glut 2 transporter
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50 Points
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197-J / Glut 3 transporter
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50 Points
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198-J / Glut 4 transporter
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50 Points
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199-J / BCKAD (Branched chain keto-acid dehydrogenase)
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50 Points
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200-J / Glutamine synthetase
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50 Points
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201-J / Glutaminase 1
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50 Points
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202-J / Glutamate dehydrogenase 1
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50 Points
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203-J / CPS1 (Carbamoyl phosphate synthetase I)
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50 Points
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204-J / NAG Synthase
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50 Points
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205-J / OTC (Ornithine transcarbamoylase)
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50 Points
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206-J / Argininosuccinate synthetase
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50 Points
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207-J / Argininosuccinate lyase
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50 Points
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208-J / Arginase
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50 Points
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209-J / Methylene-THF reductase
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50 Points
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210-J / SHMT (Serine hydroxymethyl transferase)
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50 Points
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211-J / Glycine cleavage complex
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50 Points
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212-J / Homocysteine methyltransferase
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50 Points
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213-J / Methionine adenosyltransferase
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50 Points
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214-J / S-adenosylhomocysteine hydrolase
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50 Points
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215-J / Cystathionine-B-synthase
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50 Points
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217-J / Phenylalanine hydroxylase
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50 Points
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218-J / Dihydrobiopterin reductase
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50 Points
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219-J / Tyrosine aminotransferase
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50 Points
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220-J / Homogentisate dioxygenase
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50 Points
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221-J / PRPP synthetase
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50 Points
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222-J / AIR synthetase
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50 Points
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223-J / AIR carboxylase
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50 Points
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224-J / Adenylosuccinate synthetase
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50 Points
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225-J / Adenylosuccinate lyase
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50 Points
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226-J / IMP dehydrogenase
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50 Points
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227-J / GMP synthetase
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50 Points
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228-J / CPS2 (Carbamoyl phosphate synthetase II)
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50 Points
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229-J / Dihydroorotate dehydrogenase
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50 Points
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230-J / CTP synthetase
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50 Points
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231-J / Purine nucleotide phosphorylase
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50 Points
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232-J / Adenosine deaminase
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50 Points
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233-J / AMP deaminase
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50 Points
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234-J / Xanthine oxidase
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50 Points
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235-J / Adenosine kinase
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50 Points
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236-J / Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
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50 Points
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237-J / Uridine-cytidine kinase
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50 Points
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238-J / Ribonucleotide reductase
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50 Points
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239-J / Thymidylate synthase
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50 Points
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240-J / Thymidine kinase
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50 Points
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300-J / Diagnose Jebediah
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1 Point
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