Aciduria PowerPoint PPT Presentations
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... to measure and identify butyl esters of amino acids in blood and ... Data analysis to measure butyl ester in sample. Glutaric Aciduria. Rare metabolic disorder ...
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Thrombocytopenia. Organic/amino aciduria. Methylmalonic Aciduria. Valine. Odd Chain fatty acids ... MMA Mutase mutants inhibit glycine cleavage enzyme. Hyperammonemia ...
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Glucose-6-phosphate dehydrogenase deficiency (G6PD) ... Methylmalonic aciduria, 1 in 100,000. Beta-ketothiolase deficiency (BKT) 1 in 100,000 ...
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... Maple syrup urine disease (MSUD) Homocystinuria (pyridoxine unresponsive) (Hcys) Glutaric aciduria type 1 (GA1) Isovaleric acidaemia (IVA) ...
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Genetic defects, biochemical abnormalities, clinical features and management of inborn errors of purine and pyrimidine metabolism
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Global medical foods for inborn errors of metabolism market size is expected to reach $4.83 Bn by 2028 at a rate of 11.9%, segmented as by product, amino acid, glytactin with gmp amino acid-modified infant formula with iron
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Mandate to quantify (normal and abnormal ranges) and identify all metabolites in ... Asphyxia. Biopterin Disorders. Biotin-responsive Multiple Carboxylase Deficiency ...
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Systems Biology in Bioscience and Medicine. DGKL/ GLMK Jena, ... Suberic Acid. Sebacic Acid. Homovanillic Acid. Threonine. Alanine. Glycine. Glucose. Patient 1 ...
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Alteraci n del metabolismo de mol culas complejas Enfermedades de ... Manosidosis, enfermedad de Salla y enfermedad por ac mulo de steres de colesterol.
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Requires separation followed by identification (coupled methodology) ... Lysis protocol, sonication? freeze-thaw? soluble fraction? lipid fraction? protein rmvl ...
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... Transplants? ... Applications In Transplantation. Nitrates, Nitrites, Nitric oxide ... Applications In Transplantation. N-acetylaspartate, Creatine, Choline ...
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Biochemistry
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Autopsy Findings: Gross. Externally normal: no dysmorphic features ... Essentials of Autopsy Practice; Recent Advances, London: Springer-Verlag 2004: 17-44 ...
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B.S.Rao MD Dept. of Pediatrics S.Railway Hospital, CHENNAI-600023, (INDIA) CAUSES OF ATAXIA : ACUTE Idiopathic Metabolic: Hypoglycemia Hyponatremia Hyperammonemia ...
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Toxicology Testing. Clinical Trial Testing. Fermentation ... Metabolomics and Drug Toxicology. Disease Diagnosis via NMR (140 Detectable Conditions) ...
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Synthesis of urea and disorders related to urea
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Excessive PRPP activity causes gout (deposition of uric acid crystals), along ... Gout. Elevated uric acid levels in the blood ...
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Pediatrics and L-Carnitine ST International Division
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... management Dietary therapy with restriction of intake of Leucine ,valine, threonine , and methionine Biotin 5 mg bid Acute episodes: Fluid therapy , ...
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Pediatrics and L-Carnitine ST International Division
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Central Nervous System Signs. Poor suck. Lethargy. Abnormal tone /loss of reflexes. Seizures ... Abnormal tone. Minor malformations. Family history of siblings ...
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From Newborn Screening to Maternal Health Violanda Grigorescu, MD, MSPH Steven J. Korzeniewski, MA, MSc, Janice V. Bach, MS Division of Genomics, Perinatal Health and ...
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Title: Presentaci n de PowerPoint Author. Last modified by: MarcosM Created Date: 6/8/2002 11:06:06 PM Document presentation format: Presentaci n en pantalla
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Constituyen un grupo de enfermedades provocadas por ... Ausente. Ausente. Ausente. GAA. Normal. RMN de cerebro (Globus pallidus) Anormal. EEG. Anormal ...
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Title: Apresenta o do PowerPoint Author: USER Last modified by: Paula Cristina Created Date: 4/10/2005 2:01:58 AM Document presentation format
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... {J|J}J~JJ J J J J J J J J J J J J J J J J J J J J J J J J J J J J J J ... 456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz GpSs tFTO ...
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Salicylate Toxicity Trina Banerjee, Renal Fellow Acid-Base Conference Pharmacokinitics and Mechanism of Action Pharmacokinetics I ASA and salicylic acid are absorbed ...
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La Diston a es un movimiento involuntario anormal, repetitivo, lento que provoca ... el movimiento estudiado, en la literatura inglesa esto se conoce como 'over flor' ...
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Elva Marcela Escobar Morales * * * * * * * * * * * * * * * * * * * * * Salicilatos Antiinflamatorio y analg sico-antipir tico mas recetado F cil acceso Toxicidad ...
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Bench-to-bedside review: Rhabdomyolysis an overview for ... Goldman: Cecil Medicine 23rd ed. Introduction. Destruction or disintegration of striated muscle ...
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'An ill-appearing infant is septic until proven otherwise' but widen your ... The basic Approach to Inborn Errors of Metabolism 'limited repertoire' of symptoms ...
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NUCLEOTIDOS DE PURINA Y PIRIMIDINA DEGRADACION DEGRADACION DE LOS NUCLEOTIDOS Se degradan constantemente Debido al recambio normal de los cidos nucleicos ...
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Newborn Screening Expansion-Cystic Fibrosis. Cystic fibrosis is a genetic disorder that is found in 1:3500 Caucasian and 1:17, ...
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Coenzyme components- 5'-AMP in FAD/NAD Activated intermediates ... How I hope to make this at least bearable if not mildly interesting. Purines and Pyrimidines ...
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Title: Slide 1 Author: Win XP Last modified by: Hanafi Created Date: 8/27/2005 4:06:37 AM Document presentation format: On-screen Show (4:3) Other titles
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When to investigate suspected metabolic disease Dr Nagi Barakat Consultant Paediatrician Hillingdon Hospital Metabolic disorders Usually inherited as autosomal ...
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Urinary tract obstruction & Stones ... whereas that from calculi / infection is usually associated with pain The formation of stone is usually the result of many ...
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l. u. c. o. s. i. d. a. s. e. Comparison of TSD with Gaucher ... Carnitine deficiencies. Peroxisomal disorders. Zellweger. Adrenoleukodystrophy. Refsum disease ...
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hereditary optic neuropathies george papanikolaou singleton hospital swansea classification monosymptomatic familial neurologic syndromes multisystem disease 1:10,000 ...
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cAMP and cGMP serve as signaling molecules. Precursor function-GTP to ... Uric acid is primate-specific. Xanthine. Uric Acid. Other species. further metabolize ...
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Biochemistry
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... Plasma: aminoacidos, carnitina total y libre, acilcarnitinas,glicosilaci n de la transferrina Orina: aminoacidos, acidos org nicos, carnitina ...
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Title: PowerPoint Presentation Author: Evert Verhagen Last modified by: l.henneman Created Date: 12/1/2005 7:49:21 AM Document presentation format
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Fluid and Electrolyte Management of the Surgical Patient Hashmi ANATOMY OF BODY FLUIDS Total Body Water Intracellular Fluid Extracellular Fluid Osmotic Pressure Total ...
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Title: The Differentiation of Mesenchymal Stem Cell Derived from the Human Umbilical Cord Blood into Hepatocyte like cells (Halfawy et al., ) Author
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... deficiency is very similar to that caused by B12 deficiency (pernicious anemia). If the problem is pernicious anemia, supplementing dietary folate might remedy ...
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Acute radiation disease (ARD) Prof. G.S. Moroz, MD Department of Oncology & Radiology, Ternopil State Medical University Chernobyl The Chernobyl accident happened at ...
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Tips for doing well in neonatology section of Pediatric Boards Shantanu Rastogi MD, MMM Neonatologist, Maimonides Medical Center Assistant Professor of Pediatrics
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... or touching movements Most common in children with autism or ... hepatic encephalopathy Drug-induced Valproate; lithium; thyroid hormone; albuterol ...
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Urea cycle Jana Novotn Amino acid oxidation and the production of urea Ammonia has to be eliminated Ammonia originates in the catabolism of amino acids that are ...
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... Medium-chain acyl-CoA dehydrogenase ... secondary targets: Carnitine palmitoytransferase deficiency type 2 ... Analysis takes the age of the infant into ...
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Attention to maintenance of airway, breathing and circulation ... CNS: Patient comatose. No obvious cranial nerve palsy. No papilledema. No focal deficit ...
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CRRT for Metabolic Diseases in the Newborn and Child. Stefano Picca, MD. Division of Nephrology, Dialysis and Renal Transplantation. Bambino Ges Pediatric ...
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Physiotherapy (P.T.) - P.T. especially when started early in life, is helpful in promoting normal motor development, and preventing deformity and contractures.
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Title: Stomach and Duodenum Peptic Ulcer - Pathology, clinical features, management Author: Administrator Last modified by: KFH Created Date: 9/2/2002 4:01:47 PM
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Title: neuro vent clinics are they worth it ? Author: Anirban Last modified by: Tom Hilliard Created Date: 1/11/2006 8:52:11 PM Document presentation format
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