Inborn Metabolic Diseases Diagnosis and Treatment - part 5 pot

... 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, ... Acyl-CoA Dehydrogenase Deficiency – 258 19 .5 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency – 258 19.6 Isobutyryl-CoA Dehydrogenase Deficiency – 259 19.7 3-Hydroxyisobutyric Aciduri...

Ngày tải lên: 12/08/2014, 05:21

... Metabolite Toxicity – 85 5.4.1 Removing Toxic Metabolites – 85 5.4.2 Blocking the Effects of Toxic Metabolites – 85 5 .5 Stimulating Residual Enzyme – 85 5 .5. 1 Co-Enzyme Treatment – 85 5 .5. 2 Enzyme Enhancement ... acidaemia, or 2-methylbutyryl CoA dehydrogenase deficiency UOAs C 6 Hexanoylcarnitine MCAD, MADD C 5 -OH 3-Hydroxyisovaleryl carni- tine, or 2-methyl-3-hy- droxy-buty...

Ngày tải lên: 12/08/2014, 05:21

... Presentation – 154 11.3.2 Metabolic Derangement – 155 11.3.3 Genetics – 155 11.3.4 Diagnosis – 155 11.3 .5 Treatment and Prognosis – 155 11.4 Fanconi-Bickel Syndrome (GLUT2 Deficiency) – 155 11.4.1 Clinical ... Neurol 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...

Ngày tải lên: 12/08/2014, 05:21

... 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- ... – 2 15 16.4 .5 Prenatal Diagnosis – 2 15 16 .5 Treatment and Prognosis – 2 15 16 .5. 1 GAMT Deficiency – 2 15 16 .5. 2 AGAT Deficiency – 216 16 .5. 3 SLC6A8 Deficiency – 21...

Ngày tải lên: 12/08/2014, 05:21

... 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 ... precursor, 4-imidazolone -5 - propio- nate and 4-amino -5 - imidazolecarboxamide, an interme- diate of purine synthesis. Treatment and Prognosis It is not clear whe...

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 51 0; parents of...

Ngày tải lên: 12/08/2014, 05:21

... 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 (+/–) Schindler disease α-N-Acetylgalactos- aminidase N-Acetylgalactos- amineglycolipids 22q13. 1-1 3.2 ... Anemia – 453 36.2 Classification of Porphyrias – 453 36.3 Diagnosis of Porphyrias – 454 36.4 5- Aminolevulini...

Ngày tải lên: 12/08/2014, 05:21

... “Orthopedia” made Nicholas Andry the father of modern orthopedics In 1741, the French pediatrician Nicholas Andry (1 658 –1742) published his epoch-making and pioneering textbook “Orthop´edie” and became the ... 12th tho- racic and 1st lumbar vertebra. d The drawing shows removal of a so- called “extradural chondroma” depicted in the paper by Fedor Krause (1 857 –1937) and Heinrich O....

Ngày tải lên: 02/07/2014, 06:20

... Rectum 39:1 352 –1 355 49. Lehur PA, Zerbib F, Glemain P et al (2002) Compari- son of quality of life and anorectal function after arti- ficial sphincter implantation. Dis Colon Rectum 45: 508 51 3 50 . Parker ... pelvic floor. Part II: three-dimensional or volume imaging. Ultrasound Obstet Gynecol 23:6 15 6 25 9. Dietz HP, Steensma AB (20 05) Posterior compartment prolapse on two-dim...

Ngày tải lên: 10/08/2014, 15:20

... consider treatment in scoliosis and sequelae of tuberculosis with awake PaCO 2 > 50 55 mmHg and a PaO 2 < 60 mmHg, and in neuromuscular dis- ease, a PaCO 2 around 45 50 mmHg and a PaO 2 ... Crit Care Med 19 95; 152 :53 8 54 4. 126. Barbé F, Quera-Salva MA, de Lattre J, et al. Long-term effects of nasal intermittent posi- tive-pressure ventilation on pulmonary function...

Ngày tải lên: 10/08/2014, 18:21