Inborn Metabolic Diseases Diagnosis and Treatment - part 2 doc

... Lancet 364: 22 2 1 -2 22 2 2. Van Spronsen FJ, Smit GPA, Erwich JJHM (20 05) Inherited meta- bolic diseases and pregnancy. BJOG: an International Journal of Obstetrics and Gynaeco logy 1 12: 2- 1 1 3. ... 347 :21 22 21 32 13. Weglage J, Grenzebach A, Teefelen-Heithoff V et al. (20 02) Tetrahy- drobiopterin responsiveness in a large series of phenylketonuria patients. J Inherit...

Ngày tải lên: 12/08/2014, 05:21

... Deficiency – 361 29 .1 .2 Succinic Semialdehyde Dehydrogenase Deficiency – 3 62 29 .2 Inborn Defects of Receptors and Transporters of Neurotransmitters – 3 62 29 .2. 1 Hyperekplexia – 3 62 29 .2. 2 GABA Receptor ... Biol Chem 27 2: 125 6 0-1 25 67 29 . Bulle F, Mattei MG, Siegrist S et al (1987) Assignment of the human γ-glutamyl transferase gene to the long arm of chromo- s...

Ngày tải lên: 12/08/2014, 05:21

... multi-approach study. J Inherit Metab Dis 28 :20 3- 22 7 22 . Mendelson DS, Wasserstein MP, Desnick RJ et al (20 06) Chest radio- graph, high-resolution CT, and pulmonary function findings in Niemann-Pick ... ganglioside GM2 which requires 3 gene prod- ucts: the E-hexosaminidase D- and E-subunits and the GM2 activator protein. Tay-Sachs disease corresponds to a de ficiency of...

Ngày tải lên: 12/08/2014, 05:21

... Tests – 124 7.1.5 Treatment and Prognosis – 124 7 .2 Uridine Diphosphate-Galactose 4'-Epimerase Deficiency – 126 7 .2. 1 Clinical Presentation – 126 7 .2. 2 Metabolic Derangement – 126 7 .2. 3 Genetics ... chromosome Xp 22. 2-p 22. 1, the PHKB gene to chromosome 16q 1 2- q13, and the PKHG2 gene to chromo- some 16p 1 2- p11 [75, 79, 80]. 6.1 · The Liver Glycogenoses Chapt...

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-d...

Ngày tải lên: 12/08/2014, 05:21

... Richner-Hanhart Syndrome) – 23 8 18 .2. 1 Clinical Presentation – 23 8 18 .2. 2 Metabolic Derangement – 23 9 18 .2. 3 Genetics – 23 9 18 .2. 4 Diagnostic Tests – 23 9 18 .2. 5 Treatment and Prognosis – 23 9 18.3 ... Glycinuria – 25 6 19 .2. 1 Clinical Presentation – 25 6 19 .2. 2 Metabolic Derangement – 25 6 19 .2. 3 Genetics – 25 7 19 .2. 4 Diagnostic Tests – 25 7 19 .2....

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 ... 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 to produce the corresponding C24 bil...

Ngày tải lên: 12/08/2014, 05:21

... [104] 20 00 6 12 6 12 P 3 - 24 .35 .2 MacArthur et al. [4] 20 01 6135 a 26 98 P/3316 M 3 - 26 .64 .2 Chaliha et al. [105] 20 01 130 130 P 316.9 12. 3 b - Hannah et al. [106] 20 02 404 c ~20 2 P /20 0 M 3 - 9 .21 .0 Eason ... [5] 20 02 834 ~515 P/319 M 3 - 25 .93 .2 Sartore et al. [107] 20 04 519 519 P 3 - 2. 3 b Signorello et al. [104] 20 00 6 12 6...

Ngày tải lên: 10/08/2014, 15:20

... 22 0 LyingonLeft/RightSide 22 0 LyingProne 22 1 AbnormalIllnessBehavior 22 1 Reproducibility 22 1 Differential Diagnosis of Spinal Pain Syndromes 22 2 Recapitulation 22 2 KeyArticles 22 3 References 22 4 9 Imaging ... 419 GastrointestinalFunction 420 ThromboembolicProphylaxis 420 PostoperativePainManagement 420 ConsequencesofPain 420 Non-narcotics 421 Non-steroidalDrugs 421 O...

Ngày tải lên: 02/07/2014, 06:20

... Eur Respir J 20 00; 16: 123 – 127 . 29 . Claman D, Murr A, Trotter K. Clinical validation of the Bedbugg in detection of obstructive sleep apnea. Otolaryngol Head Neck Surg 20 01; 125 :22 7 23 0. 30. Emsellem ... http://www.aptweb.org/pdf/cmscpap.pdf last accessed 7-1 8-0 6. 22 . Flemons W, Littner MR. Measuring agreement between diagnostic devices. Chest 20 03; 124 :1535–15 42....

Ngày tải lên: 10/08/2014, 18:21