Inborn Metabolic Diseases Diagnosis and Treatment - part 4 ppsx

... Tetradecenoyl-MCAD Octanoyl- Hexanoyl-Decenoyl- Suberyl-Phenylpropionyl-SCAD Butyryl- Butyryl- EthylmalonicLCHAD 3-Hydroxy-palmitoyl- 3-Hydroxydicarboxylic3-Hydroxy-oleoyl-3-Hydroxy-linoleoyl-DER ... Dodecadienoyl-ETF and ETF-DH Butyryl- Isovaleryl- EthylmalonicIsovaleryl- Hexanoyl- GlutaricGlutaryl- IsovalericHMG-CoA lyase Methylglutaryl- 3-Hydroxy-3-methylglutaricDER, 2 , 4- dienoyl-coenzyme ... Z-hydroxy-LTB 4 yields Z-aldehyde-LTB 4 and Z-carboxy-LTB 4 , respectively. Patients with SLS exhibit highly elevated urinary concentra-tions of LTB 4 and Z-hydroxy-LTB 4 , while Z-carboxy-LTB 4 is not...

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Inborn Metabolic Diseases Diagnosis and Treatment - part 2 doc

... metabolism 4 Long-chain 3-hydroxyacyl-CoA dehydrogenase 4 D-methylacyl-CoA racemase 4 Mevalonic aciduria 4 Niemann-Pick type C 4 Peroxisomal disorders 4 Transaldolase deficiency 4 Tyrosinemia ... et al (2005) Leucoencephalo-pathy with ataxia, hypodontia and hypomyelination. Neurology 64: 146 1-1 46 4 1 43 Anemias (Macrocytic) 4 Hereditary orotic aciduria 4 Inborn errors of cobalamin ... disorders 4 Schwachman syndrome 4 Transaldolase deficiencyVacuolated Lymphocytes 4 Aspartylglucosaminuria 4 Austin disease 4 Ceroid lipofuscinosis 4 I-cell disease (mucolipidosis type II) 4 Landing...

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Inborn Metabolic Diseases Diagnosis and Treatment - part 3 ppt

... UDP-galactose- 4- epimerase gene, associated with generalized epimerase-defi-ciency galactosemia. Am J Hum Genet 64: 46 2 -4 7056. Wohlers TM, Fridovich-Keil JL (2000) Studies of the V94M-sub-stituted ... galactos-emia and mutations at the galactose-1-phosphate uridyl trans-ferase (GALT) gene. Hum Mutat 13 :41 7 -4 30 4. Elsas LJ II, Lai K (1998) The molecular biology of galactosemia. Genet Med 1 :4 0 -4 85. ... Lancaster, pp 12 5-1 32 43 . Gitzelmann R, Steinmann B (19 84) Galactosemia: How does long-term treatment change the outcome? Enzyme 32:3 7 -4 6 44 . Holton JB (1996) Galactosaemia: pathogenesis and treatment. ...

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Inborn Metabolic Diseases Diagnosis and Treatment - part 5 pot

... retardation, and leu-koencephalopathy in a 61-year-old female.3-Methylglutaconyl (MGC)-CoA is metabolized to 3-hydroxy-3-methylglutaryl-CoA by 3-MGC-CoA hydra-tase (. Fig. 19.1, enzyme 4) . Defective ... urinary 4- hydroxyphenylpyruvate and 4- hydroxyphenyllactate, metabolic acidosis and 5-oxo-prolinuria during infancy. 4- Hydroxycyclohexylacetate is usually detectable only after infancy.18.6.5 Treatment ... Pediatr 1 24: 23 9-2 43 13. Massoud AF, Leonard JV (1993) Cardiomyopathy in propionic acidaemia. Eur J Pediatr 152 :44 1 -4 45 14. Nyhan WL, Ozand PT (2000) Organic acidemias. In: Atlas of meta-bolic diseases. ...

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Inborn Metabolic Diseases Diagnosis and Treatment - part 7 docx

... precursor, 4- imidazolone-5-propio-nate and 4- amino-5-imidazolecarboxamide, an interme-diate of purine synthesis. Treatment and PrognosisIt is not clear whether reducing formiminoglutamate ex-cretion ... deficiency of early and late onset. J Pediatr 101: 54 6-5 50 5. Suormala T, Fowler B, Jakobs C et al (1998) Late-onset holocarbo-xylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation ... I gene. Nat Genet 8:23 6-2 42 45 . Bandmann O, Valante EM, Holmans P et al (1998) Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 44 : 64 9- 656 46 . Furukawa Y, Shimadzu...

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Inborn Metabolic Diseases Diagnosis and Treatment - part 8 pdf

... by FAB-MS or ESI-MS/MS shows the presence of major ions attributable to the glycine conjugates of 7D-hydroxy-3-oxo -4 - cholenoic acid and 7D,12D-dihy-droxy -4 - cholenoic acid (m/z = 44 4 and 46 0; ... saturation of the C4 double bonds of bile acid precursors such as 7D-hydroxy-cholest -4 - en-3-one and 7D,12D-dihydroxy-cholest -4 - en-3-one. These intermediates can then undergo side-chain oxidation ... in plasma: 7D-hydroxycholes-terol, 7D-hydroxy-cholest -4 - en-3-one, 7D,12D-dihydroxy-cholest -4 - en-3-one. Plasma concentrations of bile acids are low; plasma concentrations of bile-alcohol glucuronides...

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Inborn Metabolic Diseases Diagnosis and Treatment - part 9 docx

... 29:53 1-5 3658. Sener RN (2003) Metachromatic leukodystrophy. Diffusion MR im-aging and proton MR spectroscopy. Acta Radiol 44 :44 0 -4 43 59. Oguz KK, Anlar B, Senbil N, Cila A (20 04) Diffusion-weighted ... aceruloplasminemia. Ann Neurol 41 :40 4- 4 07Chapter 38 · Disorders of Sphingolipid MetabolismX 49 453. Shapiro EG, Lockman LA, Knopman D, Krivit W (19 94) Characteris-tics of the dementia in late-onset metachromatic ... Fucosides glycolipids1p 24 No common mutationsUrine oligos WBC enzyme assay CVB CNS, SKAAspartylglucos-aminuriaAspartylglucosamini-daseAspartyl-glucos-amine4q3 2-3 3 C163S (90% of Finnish...

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Spinal Disorders: Fundamentals of Diagnosis and Treatment Part 4 docx

... anatomical drawings and therefore his anatomical discoveries remained unknown for centuries.Andreas Vesalius(15 14 15 64) is the founderof modern spinal anatomyAndreas Vesalius (15 14 15 64) broke with ... Venel. i Paul Randall Harring-ton (1911–1980).j Harrington hooks and rods for the treatment of scoliosis.Non-operative Treatment An ancient Indian epicfirst described scoliosis treatment (3500–1800B.C.)Probably ... gynecolo-gist and obstetrician, who introduced chloroform as a narcotizing agent after alarge series of heroic self-experiments. In 18 84, the Austrian ophthalmologistKarl Koller (1875–1 944 ) first...

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Fecal Incontinence Diagnosis and Treatment - part 4 docx

... ileo-analreservoirs. Int J Colorectal Dis 9 :40 44 40 . Farouk R, Duthie GS, MacGregor AB et al (19 94) Rec-toanal inhibition and incontinence in patients withrectal prolapse. Br J Surg 81: 743 – 746 41 . ... implica-tions? Colorectal Dis 1: 146 –150 34. Loder PB, Kamm MA, Nicholls RJ et al (19 94) Pathol-ogy, pathophysiology and aetiology. Br J Surg81: 946 –9 54 35. Lunniss PJ, Phillips R (1992) Anatomy and ... examination and abdominal radiographsin elderly patients. Age Ageing 19: 142 – 143 6. Norton NJ (20 04) The perspective of the patient. Gas-troenterology 126:S175–S1797. Rao SSC (20 04) Diagnosis and management...

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Obstructive Sleep Apnea Diagnosis and Treatment - part 4 doc

... Med 1996; 153:7 94 798.26. Hudgel DW, Fung C. A long-term randomized, cross-over comparison of auto-titrating and standard nasal continuous airway pressure. Sleep 2000; 23: 645 – 648 .27. Massie ... 1996; 1 54: 7 34 740 . 147 . Ayas NT, Patel SR, Malhotra A, et al. Auto-titrating versus standard continuous positive airway pressure for the treatment of obstructive sleep apnea: results of a meta-analysis. ... intermittent positive pressure venti-lation on lifespan and causes of death in Duchenne muscular dystrophy. Rinsho Shinkeigaku 2005; 45 : 643 – 646 . 84. Perez-Padilla R, West P, Lertzman M, et...

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