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Inborn Metabolic Diseases Diagnosis and Treatment - part 5 pot

Inborn Metabolic Diseases Diagnosis and Treatment - part 5 pot

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 Aciduria – 259 19.8 ... 256 19.2.2 Metabolic Derangement – 256 19.2.3 Genetics – 257 19.2.4 Diagnostic Tests – 257 19.2 .5 Treatment and Prognosis – 257 19.3 3-Methylglutaconic Aciduria Type I – 257 19.4 Short/Branched-Chain...
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Inborn Metabolic Diseases Diagnosis and Treatment - part 2 doc

Inborn Metabolic Diseases Diagnosis and Treatment - part 2 doc

... 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 deficiencyUOAsC6Hexanoylcarnitine MCAD, MADDC 5 -OH 3-Hydroxyisovaleryl carni-tine, or 2-methyl-3-hy-droxy-butyrylcarnitineBiotinidase, HMG-CoA ... fetalis)Malformations4 3-OH-isobutyryl-CoA deacylase deficiency (limbs, verte brae)4 Cholesterol synthesis defects: 5 Smith-Lemli-Opitz 5 Conradi-Hünermann-Happle syndrome 5 Desmosterolosis 5 Greenberg...
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Inborn Metabolic Diseases Diagnosis and Treatment - part 3 ppt

Inborn Metabolic Diseases Diagnosis and Treatment - part 3 ppt

... 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 of McArdle disease. Arch Neurol 57 :92 3-9 24 ... 155 11.4.1 Clinical Presentation – 155 11.4.2 Metabolic Derangement – 156 11.4.3 Genetics – 156 11.4.4 Diagnosis – 156 11.4 .5 Treatment and Prognosis – 156 References – 157 ...
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Inborn Metabolic Diseases Diagnosis and Treatment - part 4 ppsx

Inborn Metabolic Diseases Diagnosis and Treatment - part 4 ppsx

... Suberyl-Phenylpropionyl-SCAD Butyryl- Butyryl- EthylmalonicLCHAD 3-Hydroxy-palmitoyl- 3-Hydroxydicarboxylic3-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 – 21616 .5. 3 SLC6A8 Deficiency – 216 References – 216Chapter 15 · ... Isovaleryl- EthylmalonicIsovaleryl- Hexanoyl- GlutaricGlutaryl- IsovalericHMG-CoA lyase Methylglutaryl- 3-Hydroxy-3-methylglutaricDER, 2,4-dienoyl-coenzyme A reductase; ETF, electron-transfer...
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Inborn Metabolic Diseases Diagnosis and Treatment - part 7 docx

Inborn Metabolic Diseases Diagnosis and Treatment - part 7 docx

... 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 PrognosisIt is not clear whether reducing formiminoglutamate ex-cretion ... formation of 5- oxoproline exceeds the capacity of 5- oxoprolinase. Therefore, 5- oxo-proline accumulates in the body fluids, causing metabolic acidosis and 5- oxoprolinuria. The level of J-glutamylcysteine...
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Inborn Metabolic Diseases Diagnosis and Treatment - part 8 pdf

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 ... 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 m/z 80) and sometimes ... cholanoids were 3E-hy-droxy -5 - cholenoic acid and 3E-hydroxy -5 - cholestenoic acid. 34.6 .5 Treatment and PrognosisThe patient showed a deterioration with ursodeoxycholic acid and no improvement...
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Inborn Metabolic Diseases Diagnosis and Treatment - part 9 docx

Inborn Metabolic Diseases Diagnosis and Treatment - part 9 docx

... SKAAspartylglucos-aminuriaAspartylglucosamini-daseAspartyl-glucos-amine4q3 2-3 3 C163S (90% of Finnish patients)Urine oligos WBC enzyme assay CVB CNS, DYS, SD (+/–)Schindler disease α-N-Acetylgalactos-aminidaseN-Acetylgalactos-amineglycolipids22q13. 1-1 3.2 ... Anemia – 453 36.2 Classification of Porphyrias – 453 36.3 Diagnosis of Porphyrias – 454 36.4 5- Aminolevulinic Acid Dehydratase Porphyria – 454 36 .5 Acute Intermittent Porphyria – 455 36.6 Congenital ... the E-hexosaminidase D- and E-subunits and the GM2 activator protein. Tay-Sachs disease corresponds to a de ficiency of the D-subunit and thus of hexosaminidase A (DE heterodimer), Sandhoff...
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Spinal Disorders: Fundamentals of Diagnosis and Treatment Part 5 doc

Spinal Disorders: Fundamentals of Diagnosis and Treatment Part 5 doc

... “Orthopedia”made Nicholas Andrythe father of modernorthopedicsIn 1741, the French pediatrician Nicholas Andry (1 658 –1742) published hisepoch-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. Oppenheim (1 858 –1919) ... muscles and the muscle dys-function theory as outlined above. A very prominent advocate of tenotomy wasthe French surgeon Jules Ren´eGu´erin (1801–1886), who developed this tech-nique in 18 35 and...
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Fecal Incontinence Diagnosis and Treatment - part 5 doc

Fecal Incontinence Diagnosis and Treatment - part 5 doc

... Rectum39:1 352 –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 ... pelvicfloor. Part II: three-dimensional or volume imaging.Ultrasound Obstet Gynecol 23:6 15 6 25 9. Dietz HP, Steensma AB (20 05) Posterior compartmentprolapse on two-dimensional and three-dimensionalpelvic ... Rec-tum 41: 151 6– 152 224. Londono-Schimmer EE, Garcia-Duperly R, Nicholls RJet al (1994) Overlapping anal sphincter repair for fae-cal incontinence due to sphincter trauma: five year fol-low-up...
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Obstructive Sleep Apnea Diagnosis and Treatment - part 5 pptx

Obstructive Sleep Apnea Diagnosis and Treatment - part 5 pptx

... consider treatment in scoliosis and sequelae of tuberculosis with awake PaCO2 > 50 55 mmHg and a PaO2 < 60 mmHg, and in neuromuscular dis-ease, a PaCO2 around 45 50 mmHg and a PaO2 ... 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 and sleep architecture ... maxilla and mandible are advanced 10 to 15 mm. A Le Fort I oste-otomy and bilateral sagittal split mandib-ular osteotomy are performed. The advanced segments of bone are stabilized with bi-cortical...
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