Inborn Metabolic Diseases Diagnosis and Treatment - part 4 ppsx

... Tetradecenoyl- MCAD Octanoyl- Hexanoyl- Decenoyl- Suberyl- Phenylpropionyl- SCAD Butyryl- Butyryl- Ethylmalonic LCHAD 3-Hydroxy-palmitoyl- 3-Hydroxydicarboxylic 3-Hydroxy-oleoyl- 3-Hydroxy-linoleoyl- DER ... Dodecadienoyl- ETF and ETF-DH Butyryl- Isovaleryl- Ethylmalonic Isovaleryl- Hexanoyl- Glutaric Glutaryl- Isovaleric HMG-CoA lyase Methylglutaryl- 3-Hydroxy-3-methylglutaric DER, 2 , 4-...

Ngày tải lên: 12/08/2014, 05:21

... 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...

Ngày tải lên: 12/08/2014, 05:21

... UDP-galactose- 4- epimerase gene, associated with generalized epimerase-defi- ciency galactosemia. Am J Hum Genet 64: 46 2 -4 70 56. 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 galactose...

Ngày tải lên: 12/08/2014, 05:21

... 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...

Ngày tải lên: 12/08/2014, 05:21

... precursor, 4- imidazolone-5-propio- nate and 4- amino-5-imidazolecarboxamide, an interme- diate of purine synthesis. Treatment and Prognosis It 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...

Ngày tải lên: 12/08/2014, 05:21

... 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 underg...

Ngày tải lên: 12/08/2014, 05:21

... 29:53 1-5 36 58. 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 07 Chapter 38 · Disorders of Sphingolipid Metabolism X 49 4 53. Shapiro EG, Lockman LA, Knopman D, Krivit W (19 94) Characteris-...

Ngày tải lên: 12/08/2014, 05:21

... anatomical drawings and therefore his anatomical discoveries remained unknown for centuries. Andreas Vesalius (15 14 15 64) is the founder of modern spinal anatomy Andreas 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 epic first described scolio...

Ngày tải lên: 02/07/2014, 06:20

... ileo-anal reservoirs. 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 with rectal 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 Surg 81: 946 –9 54 35. Lunniss PJ,...

Ngày tải lên: 10/08/2014, 15:20

... 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...

Ngày tải lên: 10/08/2014, 18:21