97 Methylmalonic PPTs View free & download

Organic Acid Disorders PowerPoint PPT Presentation

Organic Acid Disorders - Thrombocytopenia. Organic/amino aciduria. Methylmalonic Aciduria. Valine. Odd Chain fatty acids ... MMA Mutase mutants inhibit glycine cleavage enzyme. Hyperammonemia ...

Thrombocytopenia. Organic/amino aciduria. Methylmalonic Aciduria. Valine. Odd Chain fatty acids ... MMA Mutase mutants inhibit glycine cleavage enzyme. Hyperammonemia ...

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Neonatal Screening from Molecules to Ethics PowerPoint PPT Presentation

Neonatal Screening from Molecules to Ethics - Glucose-6-phosphate dehydrogenase deficiency (G6PD) ... Methylmalonic aciduria, 1 in 100,000. Beta-ketothiolase deficiency (BKT) 1 in 100,000 ...

Glucose-6-phosphate dehydrogenase deficiency (G6PD) ... Methylmalonic aciduria, 1 in 100,000. Beta-ketothiolase deficiency (BKT) 1 in 100,000 ...

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Elevated tHcy in Alzheimer Cause or result of disease PowerPoint PPT Presentation

Elevated tHcy in Alzheimer Cause or result of disease - The relation between serum cobalamin and plasma methylmalonic acid in new-borns at term ... status at six weeks in terms of serum cobalamin and plasma methylmalonic ...

The relation between serum cobalamin and plasma methylmalonic acid in new-borns at term ... status at six weeks in terms of serum cobalamin and plasma methylmalonic ...

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Medical Foods For Inborn Errors Of Metabolism Market Share, Size, Analysis And Forecast 2033 PowerPoint PPT Presentation

Medical Foods For Inborn Errors Of Metabolism Market Share, Size, Analysis And Forecast 2033 - 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

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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Subacute combined degeneration of the spinal cord: a brief review. PowerPoint PPT Presentation

Subacute combined degeneration of the spinal cord: a brief review. - Ravina et al. MR findings in subacute combined degeneration of the spinal cord: a case of reversible cervical myelopathy. AJR, 2000 Mar; 174(3) 863-865.

Ravina et al. MR findings in subacute combined degeneration of the spinal cord: a case of reversible cervical myelopathy. AJR, 2000 Mar; 174(3) 863-865.

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MEGALOBLASTIC ANEMIA PowerPoint PPT Presentation

MEGALOBLASTIC ANEMIA - Blood cell count: macrocytic anemia ( MCV100fl ) thrombocytopenia leucopenia (granulocytopenia) low reticulocyte count 2. Blood smear: macroovalocytosis , ...

Blood cell count: macrocytic anemia ( MCV100fl ) thrombocytopenia leucopenia (granulocytopenia) low reticulocyte count 2. Blood smear: macroovalocytosis , ...

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Innovation To Prove To Be A Blockbuster In The Newborn Metabolic Screening Market PowerPoint PPT Presentation

Innovation To Prove To Be A Blockbuster In The Newborn Metabolic Screening Market - The Newborn Metabolic Screening Market is to grow at a CAGR of 9.2% between 2020 to 2030 and reach US$ US$ 247 Mn.

The Newborn Metabolic Screening Market is to grow at a CAGR of 9.2% between 2020 to 2030 and reach US$ US$ 247 Mn.

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Confirmatory and differential diagnostic tests after positive screening results PowerPoint PPT Presentation

Confirmatory and differential diagnostic tests after positive screening results - Title: 1. dia Author: Monostori P ter Last modified by: karg Created Date: 1/2/2005 4:05:12 PM Document presentation format: Diavet t s a k perny re

Title: 1. dia Author: Monostori P ter Last modified by: karg Created Date: 1/2/2005 4:05:12 PM Document presentation format: Diavet t s a k perny re

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Macrocytic anemia: B12 & folate PowerPoint PPT Presentation

Macrocytic anemia: B12 & folate - Macrocytic anemia: B12 & folate Macrocytosis Practical approach to Macrocytosis History for alcohol, liver CBC and blood film for evidence of marrow disease ...

Macrocytic anemia: B12 & folate Macrocytosis Practical approach to Macrocytosis History for alcohol, liver CBC and blood film for evidence of marrow disease ...

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MEGALOBLASTIC ANEMIA - Any slowing of DNA production marrow failure. MEGALOBLASTIC ANEMIA ... to be avoided unless hemodynamic compromise is present, or patient having angina ...

Any slowing of DNA production marrow failure. MEGALOBLASTIC ANEMIA ... to be avoided unless hemodynamic compromise is present, or patient having angina ...

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Approach to anemia PowerPoint PPT Presentation

Approach to anemia - Title: General Principles Author: Bob Richard Last modified by: AK Created Date: 3/27/2001 1:44:51 AM Document presentation format: On-screen Show (4:3)

Title: General Principles Author: Bob Richard Last modified by: AK Created Date: 3/27/2001 1:44:51 AM Document presentation format: On-screen Show (4:3)

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Newborn Screening PowerPoint PPT Presentation

Newborn Screening - Mayo Clinic College of Medicine. Rochester, MN. History & Increasing Impact. on Medical Practice ... Mayo Clinic College of Medicine (established June 2004) ...

Mayo Clinic College of Medicine. Rochester, MN. History & Increasing Impact. on Medical Practice ... Mayo Clinic College of Medicine (established June 2004) ...

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An Approach to Anemia 4-3-03 PowerPoint PPT Presentation

An Approach to Anemia 4-3-03 - Title: General Principles Author: Bob Richard Last modified by: B Richard Created Date: 3/27/2001 1:44:51 AM Document presentation format: On-screen Show

Title: General Principles Author: Bob Richard Last modified by: B Richard Created Date: 3/27/2001 1:44:51 AM Document presentation format: On-screen Show

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From Newborn Screening to Maternal Health PowerPoint PPT Presentation

From Newborn Screening to Maternal Health - 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 ...

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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Anemia 101- Case Studies PowerPoint PPT Presentation

Anemia 101- Case Studies - Title: Case Studies in Anemia Subject: for resident talks Author: Peter A. Kouides M.D. Last modified by: drkhoury Created Date: 8/23/1995 12:21:18 PM

Title: Case Studies in Anemia Subject: for resident talks Author: Peter A. Kouides M.D. Last modified by: drkhoury Created Date: 8/23/1995 12:21:18 PM

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24. Onecarbon metabolism PowerPoint PPT Presentation

24. Onecarbon metabolism - ... deficiency is very similar to that caused by B12 deficiency (pernicious anemia). If the problem is pernicious anemia, supplementing dietary folate might remedy ...

... 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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Vitamine B 12 en MS PowerPoint PPT Presentation

Vitamine B 12 en MS - ... lues Inflammatoir Vasculitis, SLE en andere rheumatische aandoeningen MS, myelitis transversa, neuromyelitis optica Metabool O.a. Adrenoleukodystrofie Vit B 12, ...

... lues Inflammatoir Vasculitis, SLE en andere rheumatische aandoeningen MS, myelitis transversa, neuromyelitis optica Metabool O.a. Adrenoleukodystrofie Vit B 12, ...

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Influence of the Transcobalamin II 776CG Polymorphism on Vitamin B12 Status in Older Adults PowerPoint PPT Presentation

Influence of the Transcobalamin II 776CG Polymorphism on Vitamin B12 Status in Older Adults - Subacute combined degeneration (SACD) (demyelination with central and peripheral ... SACD. Megaloblastic Anemia. Glossitis. Causes of Vitamin B12 Deficiency ...

Subacute combined degeneration (SACD) (demyelination with central and peripheral ... SACD. Megaloblastic Anemia. Glossitis. Causes of Vitamin B12 Deficiency ...

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Rare problem, but increasing incidence of pancreatic disorders acute and recurrent PowerPoint PPT Presentation

Rare problem, but increasing incidence of pancreatic disorders acute and recurrent - Rare problem, but increasing incidence of pancreatic disorders acute and recurrent ... Annular pancreas (in adults) Genetic and congenital disorders ...

Rare problem, but increasing incidence of pancreatic disorders acute and recurrent ... Annular pancreas (in adults) Genetic and congenital disorders ...

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This page has moved, Click here to go there. PowerPoint PPT Presentation

This page has moved, Click here to go there. - When to investigate suspected metabolic disease Dr Nagi Barakat Consultant Paediatrician Hillingdon Hospital Metabolic disorders Usually inherited as autosomal ...

When to investigate suspected metabolic disease Dr Nagi Barakat Consultant Paediatrician Hillingdon Hospital Metabolic disorders Usually inherited as autosomal ...

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Systematic Approach in Anemia Evaluation and Review of Peripheral Smears

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ANEMIAS - 2- Primary involvement of the BM such as aplastic anemia,PRCA,MDS,or tumor infiltration. 3- Low levels of trophic ...

2- Primary involvement of the BM such as aplastic anemia,PRCA,MDS,or tumor infiltration. 3- Low levels of trophic ...

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APPROACH TO ANEMIA William Lamb Jr. D.O., FACP Director Osteopathic Medical Education, UPMC Shadyside PowerPoint PPT Presentation

APPROACH TO ANEMIA William Lamb Jr. D.O., FACP Director Osteopathic Medical Education, UPMC Shadyside - APPROACH TO ANEMIA William Lamb Jr ... Aging with achlorhydria Celiac disease Pancreatic insufficiency Bacterial overgrowth B12 deficiency exam Glossitis Pallor ...

APPROACH TO ANEMIA William Lamb Jr ... Aging with achlorhydria Celiac disease Pancreatic insufficiency Bacterial overgrowth B12 deficiency exam Glossitis Pallor ...

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10' Onecarbon metabolism PowerPoint PPT Presentation

10' Onecarbon metabolism - A shortage of folate in this period can cause neural-tube defects, including spina bifida. ... Folate deficiency is probably the most common vitamin deficiency. ...

A shortage of folate in this period can cause neural-tube defects, including spina bifida. ... Folate deficiency is probably the most common vitamin deficiency. ...

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?? ( Bone Marrow) - ( Bone Marrow) ...

( Bone Marrow) ...

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Metabolic Diseases that push the indications for Liver Transplantation PowerPoint PPT Presentation

Metabolic Diseases that push the indications for Liver Transplantation - Survival after Liver Transplantation. Birmingham Programme pre and post 1989 ... Indications for Transplantation for Metabolic Disease ...

Survival after Liver Transplantation. Birmingham Programme pre and post 1989 ... Indications for Transplantation for Metabolic Disease ...

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Nutritional Deficiency Anemias PowerPoint PPT Presentation

Nutritional Deficiency Anemias - ... iron deficiency is most common between 6 and 24 months of life ... If the level of urinary radiolabeled B12 normalizes, then this indicates pernicious anemia ...

... iron deficiency is most common between 6 and 24 months of life ... If the level of urinary radiolabeled B12 normalizes, then this indicates pernicious anemia ...

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Newborn Screening via Tandem Mass Spectrometry, Michigan, 2006 PowerPoint PPT Presentation

Newborn Screening via Tandem Mass Spectrometry, Michigan, 2006 - Glutaric Acidemia Type II- (GA II) 0. 0.01. 0. 15 (40.0) ... Glutaric Acidemia Type I (GA I) 2.7. 0.029. 1 : 125,600. 1. 37 (16.2) ...

Glutaric Acidemia Type II- (GA II) 0. 0.01. 0. 15 (40.0) ... Glutaric Acidemia Type I (GA I) 2.7. 0.029. 1 : 125,600. 1. 37 (16.2) ...

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L-Carnitin in der P PowerPoint PPT Presentation

L-Carnitin in der P - Pediatrics and L-Carnitine ST International Division

Pediatrics and L-Carnitine ST International Division

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Newborn Screening Services Expanded Panel Implementation - Newborn Screening Services Expanded Panel Implementation

Newborn Screening Services Expanded Panel Implementation

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The%20septic%20appearing%20infant:%20approach%20and%20case%20discussion PowerPoint PPT Presentation

The%20septic%20appearing%20infant:%20approach%20and%20case%20discussion - 'An ill-appearing infant is septic until proven otherwise' but widen your ... The basic Approach to Inborn Errors of Metabolism 'limited repertoire' of symptoms ...

'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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L-Carnitin in der P - Pediatrics and L-Carnitine ST International Division

Pediatrics and L-Carnitine ST International Division

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Newborn Screening: Ontario PowerPoint PPT Presentation

Newborn Screening: Ontario - ... Medium-chain acyl-CoA dehydrogenase ... secondary targets: Carnitine palmitoytransferase deficiency type 2 ... Analysis takes the age of the infant into ...

... Medium-chain acyl-CoA dehydrogenase ... secondary targets: Carnitine palmitoytransferase deficiency type 2 ... Analysis takes the age of the infant into ...

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Genetic testing PowerPoint PPT Presentation

Genetic testing - Medium Chain Acyl-CoA ... Disorders include Carnitine Uptake Defect (CUD), Long-Chain ... urine and may be detected in newborn screening through analysis of ...

Medium Chain Acyl-CoA ... Disorders include Carnitine Uptake Defect (CUD), Long-Chain ... urine and may be detected in newborn screening through analysis of ...

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Movement Disorders in Children PowerPoint PPT Presentation

Movement Disorders in Children - ... or touching movements Most common in children with autism or ... hepatic encephalopathy Drug-induced Valproate; lithium; thyroid hormone; albuterol ...

... or touching movements Most common in children with autism or ... hepatic encephalopathy Drug-induced Valproate; lithium; thyroid hormone; albuterol ...

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Elevated tHcy in Alzheimer Cause or result of disease - Vitamin-B deficiency in the elderly. Vitamin-B deficiency in new-born ... Analyses, automation and construction and modification of instruments. Nutrition and clinics ...

Vitamin-B deficiency in the elderly. Vitamin-B deficiency in new-born ... Analyses, automation and construction and modification of instruments. Nutrition and clinics ...

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From newborn screening to preconception care: PowerPoint PPT Presentation

From newborn screening to preconception care: - ... with a mild form (13 women; 24.1% of 54) and 33% (30) to those having ... from infants during the first few days of life for signs of treatable disorders. ...

... with a mild form (13 women; 24.1% of 54) and 33% (30) to those having ... from infants during the first few days of life for signs of treatable disorders. ...

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The Human Metabolome Project: Its Application to Disease Diagnosis PowerPoint PPT Presentation

The Human Metabolome Project: Its Application to Disease Diagnosis - Mandate to quantify (normal and abnormal ranges) and identify all metabolites in ... Asphyxia. Biopterin Disorders. Biotin-responsive Multiple Carboxylase Deficiency ...

Mandate to quantify (normal and abnormal ranges) and identify all metabolites in ... Asphyxia. Biopterin Disorders. Biotin-responsive Multiple Carboxylase Deficiency ...

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Metabolic Disorders - Metabolic Disorders

Metabolic Disorders

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Approach to Anemia/ PM PowerPoint PPT Presentation

Approach to Anemia/ PM - Approach to Anemia/ PM ... known study of B12 deficiency in the nursing home population Vitamin B-12 deficiency is present in up to 15% of the elderly population ...

Approach to Anemia/ PM ... known study of B12 deficiency in the nursing home population Vitamin B-12 deficiency is present in up to 15% of the elderly population ...

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Systems Biology in Bioscience and Medicine PowerPoint PPT Presentation

Systems Biology in Bioscience and Medicine - Systems Biology in Bioscience and Medicine. DGKL/ GLMK Jena, ... Suberic Acid. Sebacic Acid. Homovanillic Acid. Threonine. Alanine. Glycine. Glucose. Patient 1 ...

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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ANEMIA - ANEMIA Brian L Penza, D.O. Philadelphia College of Osteopathic Medicine General Characteristics Anemia defined as reduction in Hct (volume of RBCs) or Hb ...

ANEMIA Brian L Penza, D.O. Philadelphia College of Osteopathic Medicine General Characteristics Anemia defined as reduction in Hct (volume of RBCs) or Hb ...

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High Blood, Low Blood, Bad Blood, and Electric Lights: Geriatrics in the Inner City PowerPoint PPT Presentation

High Blood, Low Blood, Bad Blood, and Electric Lights: Geriatrics in the Inner City - Anemia and Heart Failure: Cognition, Affect, and Functional Status Susan G. Nayfield, M.D., M.Sc. Geriatrics and Clinical Gerontology Program National Institute on Aging

Anemia and Heart Failure: Cognition, Affect, and Functional Status Susan G. Nayfield, M.D., M.Sc. Geriatrics and Clinical Gerontology Program National Institute on Aging

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High Blood, Low Blood, Bad Blood, and Electric Lights: Geriatrics in the Inner City - Depression associated with increased risk of anemia (OR1.93; 95% CI 1.19-3.13) ... Depression, acute psychosis ('megaloblastic madness') Risk of stroke (homocysteine) ...

Depression associated with increased risk of anemia (OR1.93; 95% CI 1.19-3.13) ... Depression, acute psychosis ('megaloblastic madness') Risk of stroke (homocysteine) ...

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An Approach to Anemia 4-3-03 - An Approach to Anemia 4-3-03 Bob Richard faculty.washington.edu/rrichard connect to Talks for handout Anemias so far... Jan Abkowitz - MDS That leaves a lot of stuff .

An Approach to Anemia 4-3-03 Bob Richard faculty.washington.edu/rrichard connect to Talks for handout Anemias so far... Jan Abkowitz - MDS That leaves a lot of stuff .

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Objectives - Pernicious Anemia. Most common cause of vitamin B12 deficiency ... Pernicious anemia is a systemic disease. Gastrointestinal tract involvement ...

Pernicious Anemia. Most common cause of vitamin B12 deficiency ... Pernicious anemia is a systemic disease. Gastrointestinal tract involvement ...

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Peripheral Neuropathy and Neuropathic Pain Management PowerPoint PPT Presentation

Peripheral Neuropathy and Neuropathic Pain Management - Peripheral Neuropathy and Neuropathic Pain Management Laurence J. Kinsella, M.D., F.A.A.N. Answer to TQ#3 Answer to TQ#3 These recommendations apply despite agent ...

Peripheral Neuropathy and Neuropathic Pain Management Laurence J. Kinsella, M.D., F.A.A.N. Answer to TQ#3 Answer to TQ#3 These recommendations apply despite agent ...

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Vitamins - Title: The Differentiation of Mesenchymal Stem Cell Derived from the Human Umbilical Cord Blood into Hepatocyte like cells (Halfawy et al., ) Author

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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NUTRITIONAL DISORDERS I PowerPoint PPT Presentation

NUTRITIONAL DISORDERS I - NUTRITIONAL DISORDERS I Myrna D.C. San Pedro, MD, FPPS MALNUTRITION A pathological state resulting from a relative or absolute deficiency or excess of one or more ...

NUTRITIONAL DISORDERS I Myrna D.C. San Pedro, MD, FPPS MALNUTRITION A pathological state resulting from a relative or absolute deficiency or excess of one or more ...

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Inborn Errors of Metabolism PowerPoint PPT Presentation

Inborn Errors of Metabolism - Urea cycle disease; plasma ammonia You confirm that the patient has ornithine transcarbamylase deficiency. What is the recurrence risk in the next pregnancy?

Urea cycle disease; plasma ammonia You confirm that the patient has ornithine transcarbamylase deficiency. What is the recurrence risk in the next pregnancy?

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Newborn Screening: Ontario’s Expanded Screening Program PowerPoint PPT Presentation

Newborn Screening: Ontario’s Expanded Screening Program - Newborn Screening: Ontario s Expanded Screening Program Prepared by: June C. Carroll, MD, CCFP, FCFP Sydney G. Frankfort Chair in Family Medicine

Newborn Screening: Ontario s Expanded Screening Program Prepared by: June C. Carroll, MD, CCFP, FCFP Sydney G. Frankfort Chair in Family Medicine

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METABOLIC DERANGEMENTS, HEPATIC FAILURE PowerPoint PPT Presentation

METABOLIC DERANGEMENTS, HEPATIC FAILURE - Transition from HD to CVVHD. Hyperammonemia (McBryde et al, ... HD N=2. Neonatal ... the highest NH4 clearance & HD giving best NH4 extraction (hemodynamic ...

Transition from HD to CVVHD. Hyperammonemia (McBryde et al, ... HD N=2. Neonatal ... the highest NH4 clearance & HD giving best NH4 extraction (hemodynamic ...

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The Best Kept SecretNC Newborn Screening Program PowerPoint PPT Presentation

The Best Kept SecretNC Newborn Screening Program - ... {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 ...

... {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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CQC 9/23/08 Matt George 46 yo Female PMH DM HTN Cirrhosis PowerPoint PPT Presentation

CQC 9/23/08 Matt George 46 yo Female PMH DM HTN Cirrhosis - CQC 9/23/08 Matt George 46 yo Female PMH DM HTN Cirrhosis (NASH), MELD 22 OSA Uterine Fibroids Morbid Obesity, BMI 57.7 PSxH Uterine fibroid embolization SH No Tob ...

CQC 9/23/08 Matt George 46 yo Female PMH DM HTN Cirrhosis (NASH), MELD 22 OSA Uterine Fibroids Morbid Obesity, BMI 57.7 PSxH Uterine fibroid embolization SH No Tob ...

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METABOLIC DERANGEMENTS, HEPATIC FAILURE - Multiple metabolic disorders have been described that are amenable to ... in control of elevated ICP in fulminant hepatic failure (Davenport Lancet 1991:2: ...

Multiple metabolic disorders have been described that are amenable to ... in control of elevated ICP in fulminant hepatic failure (Davenport Lancet 1991:2: ...

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NMR - Requires separation followed by identification (coupled methodology) ... Lysis protocol, sonication? freeze-thaw? soluble fraction? lipid fraction? protein rmvl ...

Requires separation followed by identification (coupled methodology) ... Lysis protocol, sonication? freeze-thaw? soluble fraction? lipid fraction? protein rmvl ...

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Methylmalonic PowerPoint PPT Presentations