Inborn Metabolic Diseases Diagnosis and Treatment - part 8 pdf

... 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 ... elevated, i.e. 7D-hy- droxy-3-oxo-4-cholenoic acid > 1.5µ M and 7DD-dihy- droxy-3-oxo-4-cholenoic acid > 2.0 µM. Analysis of plasma bile acids by ESI-MS/MS shows taurine-conjug...

Ngày tải lên: 12/08/2014, 05:21

... Disease – 88 5.7.3 Mucopolysaccharidosis Type I – 88 5.7.4 Mucopolysaccharidosis Type VI – 88 5.7.5 Pompe Disease – 88 5.7.6 Other Disorders – 89 5 .8 Gene Therapy – 89 5 .8. 1 Gene Transfer – 89 5 .8. 2 ... 3.5–4.6 2 .8 4.3 2 .8 3 .8 3 .8 4.9 3.0–4.3 Lactate (mM) 0.9–1 .8 0.5–1.7 0.7–1.6 0.6–0.9 0.4–0.9 FFA (mM) 0.6–1.3 0.9–2.6 1.1–2 .8 0. 6-1 .3 1. 0-1 .8 KB (mM) 0.6–...

Ngày tải lên: 12/08/2014, 05:21

... aldolase toward fruc- tose-1,6-bisphosphate (mean 17%, range 5-3 0%). As a con- sequence, the ratio of V max towards fructose-1,6-bisphos- phate versus the V max towards F-1-P , which is approximately ... 133 8. 1.2 Metabolic Derangement – 133 8. 1.3 Genetics – 133 8. 1.4 Diagnostic Tests – 133 8. 1.5 Treatment and Prognosis – 133 8. 2 Transaldolase Deficiency – 133 8. 2.1 Cl...

Ngày tải lên: 12/08/2014, 05:21

... 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-die...

Ngày tải lên: 12/08/2014, 05:21

... psychomotor 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, ... B 12 -responsive and have a mild disease and good long-term outcome [7, 8, 45]. Conversely, both vitamin-B 12 -unrespon- sive patients with MMA and those with PA have severe dis- ease...

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 (19 98) Late-onset holocarbo- xylase synthetase-deficiency: pre- and post-...

Ngày tải lên: 12/08/2014, 05:21

... intracellular LDL-derived cholesterol processing. Biochim Bio- phys Acta 1096:32 8- 3 37 87 . Vanier MT, Suzuki K (19 98) Recent advances in elucidating Nie- mann-Pick C disease. Brain Pathol 8: 16 3-1 74 88 . Patterson ... between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci USA 101: 588 6-5 89 1 84 . Niemann-Pick disease type C, Liscum L, Sturley SL (eds) (2004) Bio- c...

Ngày tải lên: 12/08/2014, 05:21

... fecal inconti- nence and urgency. Dig Dis Sci 27 :80 7 81 4 67. Marks G, Mohiudden M (1 983 ) The surgical manage- ment of the radiation-injured intestine. Surg Clin North Am 63 :81 –96 68. Baeten CG, ... sphincter injury, fecal and urinary incontinence. A 34-year follow-up after forceps delivery. Dis Colon Rectum 46:1 083 –1 088 67. Thacker SB, Banta HD (1 983 ) Benefits and risks of...

Ngày tải lên: 10/08/2014, 15:20

... anterior longitudinal and posterior longitudinal [88 ], inter- and supra- spinous [97] and intertransverse ligaments [20]. The response to tensile load- ing is typically non-linear, with an initial ... together, and con- sists of the ligamentum flavum, facet capsule, and interspinous and intertrans- verse ligaments. The intersegmental system holds many vertebrae together and inc...

Ngày tải lên: 02/07/2014, 06:20

... 26 :81 2 81 8. 82 . Ekici A, Ekici M, Kurtipek E, et al. Association of asthma-related symptoms with snoring and apnea and effect on health-related quality of life. Chest 2005; 1 28: 33 58 3363. 83 . ... 1993; 1 48: 330–3 38. 44. Naughton MT. Pathophysiology and treatment of Cheyne-Stokes respiration. Thorax 19 98; 53:514–5 18. 45. Khoo MC, Gottschalk A, Pack AI. Sleep-induced pe...

Ngày tải lên: 10/08/2014, 18:21