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