Alcoholism Arachnodactyly Spinocerebellar ataxia (type 1, 2, 3, 6) Progressive ataxia and other type specific symptoms CAG Varies with type More often through father Exon Glycogen synthetase is then phosphorylated by cAMP-dependent protein kinase which inhibits the production of glycogen.
Leukemia risk x2/ Lung problem Diarrhoea Dermatitis Dementia Death (if untreated) • Arg and His are considered semiessential. Tay Sach's features SACHS: Type 1 glycogen storage disease "Dracula wants to Suck a Co-ed's blood [think heme] with his Glystening teeth! Achondroplasia Dwarfism is Autosomal Dominant.
Iatrogenic: NH4Cl, HCl Hepatosplenomegaly Renal failure Phe Val Thr Trp Ile Met His Arg Lue Lys Hormone sensitive lipase Active Breaks triglyceride into a fatty acid and a diglyceride Down syndrome features: complete Amino acid degradation pathways (urea cycle, tricarboxylic acid cycle).
Dehydrogenation Her's Ly=Lysine Try now for free! However, the carboxyl group and the amino group are the main titratable acids, as well as titratable side chains. By binding to phosphotyrosine, they allow signals to be passed from one molecule to another. G proteins for respective receptors
Spot in macula
Two molecules of CO2 are produced in the TCA cycle for every molecule of Acetyl-CoA. Glycogen storage: names of types I through VI They have weird fluorescing molecules in their bodies, so their teeth fluoresce (porphyrin rings.) Pyruvate kinase Inactive Converts Phosphoenolpyruvate (PEP) to Pyruvate Nucleotides: double vs. triple bonded basepairs Ligases
Tyrosinemia (type 1) 1/100,000 Fumarylacetoacetate hydrolase 15q23-25 b. INsulIN stimulates 2 things to go IN 2 cells: Potassium and Glucose. b. Eukaryotic transcription—Eukaryotic transcription is controlled by regions of DNA called promoters upstream from the material of the genes. a. Protons will dissociate from weak acids at a certain pH, depending on the strength of the bond of the dissociable hydrogen. Citrate, Isocitrate, alpha-ketoglutarate, succinyl-CoA, Succinate, Fumarate, Malate, Oxaloacetate M phase (Mitosis) "In the Phasted State, Phosphorylate": A = Acidosis (low ph), a. Squint/ Short neck Some say that vampire legends came from people with porphyrias. III Remnants Triglycerides and cholesterol Hardy-Weinberg equilibrium: causes for deviations from it Oxalic Malonic Succinic Glutaric Adipic Pimelic Suberic Azelaic Sebacic 6.
Citrate, Isocitrate, alpha-Ketogluterate, Succinyl CoA, Succinate, Fumerate, Malate, Oxaloacetate Fabry's disease (Lippincott’s Biochem p. 142-145)
Down Syndrome- Chromosome 21/ With Kompetitive inhibition: km increases; no change in Vmax. The video course "99-Day Study Schedule for USMLE Step 1" will boost your knowledge. Keep them straight by: Paternal is Prader-Willi. "Use both arms to HUG":
Friedreich’s ataxia Progressive limb ataxia, dysarthria, hypertrophic cardiomyopathy, pyramidal weakness in legs GAA 7 to 22; 200 to 900 or more Disorder is autosomal recessive, to disease alleles are inherited from both parents Intron 6.
Extracellular matrix/ Eye (cornea, sclera)/ Ehlers-Danlos Syndrome "The FAT cat is in the ADEK (attic)": c. Proteins have titration curves as well. "mt DNA".
Hemoglobin binding curve: causes of shift to right b. Amino acids, since they have a carboxyl group, are weak acids.
Maple syrup urine disease 1/180,000 Branched-chain -ketoacid decarboxylase (multiple subunits) Multiple loci Tr=Tryptophan 3-Phosphoglycerate, "Crazy Glue": iv.
c. The clinical picture is someone with light sensitivity, so they only go out at night.
Citrate, Isocitrate, alpha-Ketogluterate, Succinyl CoA, Succinate, Fumerate, Malate, Oxaloacetate Glycogen synthesis: regulation, inherited defects. Indirect & Unconjugated. "Stenosis": obstructive uropathy The role of SH2 domains is simple: they bind phosphotyrosine. Cytochrome oxidase uses oxygen as the final electron acceptor and converts it to H2O.
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