Inborn Metabolic Diseases Diagnosis and Treatment - part 9 docx

... Scand 75 :98 8 -9 92 36. Neldner KH, Hambidge KM ( 197 5) Zinc therapy of acrodermatitis enteropathica. N Engl J Med 292 :87 9- 8 82 37. Stevens J, Lubitz L ( 199 8) Symptomatic zinc deficiency in breast-fed ... SKA Aspartylglucos- aminuria Aspartylglucosamini- dase Aspartyl-glucos- amine 4q3 2-3 3 C163S (90 % of Finnish patients) Urine oligos WBC enzyme assay CVB CNS, DYS, SD (+/–) S...

Ngày tải lên: 12/08/2014, 05:21

... mapping and mutation identification. Nat Genet 7: 19 5-2 00 98 . Rosenblatt DS ( 199 4) Inborn errors of vitamin B 12 metabolism: clinical and genetic heterogeneity. Int Pediatr 9: 20 9- 2 13 99 . Sibani ... 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...

Ngày tải lên: 12/08/2014, 05:21

... features and response to biotin treatment. Neurology 59: 98 3 -9 89 29. Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M et al (2005) A mu- tation in SNAP 29, coding for a SNARE protein involved in intra- cellular ... Senadheera D, Wong LJC ( 199 7) Cyclic vomiting syndrome and mitochondrial DNA mutations. Lancet 350: 1 29 9- 1300 16. Chinnery PF, Turnbull DM ( 199 7) Vomiting, ano...

Ngày tải lên: 12/08/2014, 05:21

... 154: S7 7- S81 48. Gitzelmann R ( 199 5) Galactose-1-phosphate in the pathophysiol- ogy of galactosemia. Eur J Pediatr 154[Suppl 2]:S45-S 49 49. Walter JH, Roberts RE, Besley GT et al ( 199 9) Generalised ... 52:15 3-1 59 95 . Vissin J, Haller RG (2003) A diagnostic cycle test for McArdle‘s disease. Ann Neurol 54:53 9- 5 42 96 . Haller RG (2000) Treatment of McArdle disease. Ar...

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

... 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). ... Aciduria – 2 59 19. 8 Malonic Aciduria – 2 59 19. 8.1 Clinical Presentation – 2 59 19. 8.2 Metabolic Derangement – 2 59 19. 8.3 Genetics – 2 59 19. 8.4 Diagnostic Tests – 260 19. 8.5...

Ngày tải lên: 12/08/2014, 05:21

... 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 ... of 7D-hydroxy-3-oxo-4-cholenoic acid and 7D,12D-dihy- droxy-4-cholenoic acid (m/z = 444 and 460; parents of m/z 74), and their taurine conjugates (m/z = 494 and 510; parents of m...

Ngày tải lên: 12/08/2014, 05:21

... Lippincott-Raven, 199 7. 9. Bagnall KM, Ford DM, McFadden KD, Greenhill BJ, Raso VJ ( 198 4) The histochemical com- position of human vertebral muscle. Spine 9: 470–473 10. Bergmark A ( 198 9) Stability ... effects of age and degeneration. J Bone Joint Surg Br 78 :96 5 97 2 7. Andersson EA, Oddsson LI, Grundstrom H, Nilsson J, Thorstensson A ( 199 6) EMG activi- ties of the quadratus lumb...

Ngày tải lên: 02/07/2014, 06:20

... al ( 199 9) Antenatal prediction of postpartum urinary and fecal inconti- nence. Obstet Gynecol 94 :6 89 694 53. Chaliha C, Sultan AH, Bland JM et al (2001) Anal func- tion: Effect of pregnancy and ... Vol. 9. Saunders, Philadelphia, pp 1–324 88. Brunner HG, Hamel BC, Rieu P et al ( 199 2) Intestinal pseudo-obstruction in myotonic dystrophy. J Med Genet 29: 791 – 793 89. Eckardt VF,...

Ngày tải lên: 10/08/2014, 15:20

... inter- leukin-8; MCP-1, monocyte chemoattractant protein-1; OSA, obstructive sleep apnea. Source: From Ref. 81. Palate Tongue Carotid Body Snoring + Vibration Lung Broncho- constriction - - - - - - - Muller Maneuvers Hypoxia Nasal ... Neurosurg Psychiatry 199 8; 65(2):225–232. 91 . Margolis ML, Howlett P, Goldberg R, et al. Obstructive sleep apnea syndrome in acid m...

Ngày tải lên: 10/08/2014, 18:21