76 Tyrosinemia PPTs View free & download

Tyrosinemia I Hepatotoxicity PowerPoint PPT Presentation

Tyrosinemia I Hepatotoxicity - Inability to break down tyrosine. Tyrosine build up in body, plasma, urine. 3 types (I, II, III) ... nodular cirrhosis post-mortem hallmark of the disease ...

Inability to break down tyrosine. Tyrosine build up in body, plasma, urine. 3 types (I, II, III) ... nodular cirrhosis post-mortem hallmark of the disease ...

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Question - Can lead to kidney and liver failure. Liver cirrhosis and/or hepatocellular carcinoma (chronic) ... Symptoms of Type II Tyrosinemia. Elevated serum and plasma ...

Can lead to kidney and liver failure. Liver cirrhosis and/or hepatocellular carcinoma (chronic) ... Symptoms of Type II Tyrosinemia. Elevated serum and plasma ...

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Protein and Amino Acid Metabolism PowerPoint PPT Presentation

Protein and Amino Acid Metabolism - II. 1. Disposal of Nitrogen 2. Degradation of C-skeleton C ...

II. 1. Disposal of Nitrogen 2. Degradation of C-skeleton C ...

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AMINO ACIDS: Structure PowerPoint PPT Presentation

AMINO ACIDS: Structure - Title: DIGESTION and ABSORPTION Author: IT Services Last modified by: lenovo1 Created Date: 1/15/2003 6:57:51 PM Document presentation format: On-screen Show (4:3)

Title: DIGESTION and ABSORPTION Author: IT Services Last modified by: lenovo1 Created Date: 1/15/2003 6:57:51 PM Document presentation format: On-screen Show (4:3)

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Hepatic Inborn Errors Of Metabolism PowerPoint PPT Presentation

Hepatic Inborn Errors Of Metabolism - diet restricted in tyrosine and phenylalanine. ... Plans should be immediately made to initiate hemodialysis in infants who are ...

diet restricted in tyrosine and phenylalanine. ... Plans should be immediately made to initiate hemodialysis in infants who are ...

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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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The use of Aspergillus nidulans to identify the genetic defect responsible for the human metabolic d PowerPoint PPT Presentation

The use of Aspergillus nidulans to identify the genetic defect responsible for the human metabolic d - But the search for the defective enzyme responsible for alkaptonuria was still on. ... other enzyme mutations upstream from FAAH were responsible. Lac Phe ...

But the search for the defective enzyme responsible for alkaptonuria was still on. ... other enzyme mutations upstream from FAAH were responsible. Lac Phe ...

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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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Urea Cycle and Inborn Errors of metabolism PowerPoint PPT Presentation

Urea Cycle and Inborn Errors of metabolism - The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get ...

The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get ...

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Biomolecules: Amino Acids and Peptides PowerPoint PPT Presentation

Biomolecules: Amino Acids and Peptides - Discuss the importance of pKa values and amino acid titration curves ... structures. Peptide Bond. Steric Restrictions. Levels of Protein Structure ...

Discuss the importance of pKa values and amino acid titration curves ... structures. Peptide Bond. Steric Restrictions. Levels of Protein Structure ...

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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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cornea - structure and disease of cornea

structure and disease of cornea

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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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William A' Gahl, M'D', Ph'D' - William A' Gahl, M'D', Ph'D'

William A' Gahl, M'D', Ph'D'

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Developmental Disabilities Following a Diagnosis of a Metabolic Disorder in Children Aged 310 Years PowerPoint PPT Presentation

Developmental Disabilities Following a Diagnosis of a Metabolic Disorder in Children Aged 310 Years - 3 of the 14 children, 2 with classic galactosemia and 1 with MSUD, had MR that ... Classic (GG) 2.6 1 1 0 0 0 15. Variant (DG) 11.0 0 1 6 1 0 62 ...

3 of the 14 children, 2 with classic galactosemia and 1 with MSUD, had MR that ... Classic (GG) 2.6 1 1 0 0 0 15. Variant (DG) 11.0 0 1 6 1 0 62 ...

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Phenylketonuria (PKU) PowerPoint PPT Presentation

Phenylketonuria (PKU) - Phenylketonuria (PKU) 1 in every 10,000 20,000 births Results in mental retardation unless detected early. Also Causes fair skin. Defect phenylalanine ...

Phenylketonuria (PKU) 1 in every 10,000 20,000 births Results in mental retardation unless detected early. Also Causes fair skin. Defect phenylalanine ...

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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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These are the slides that dr.yasser al-faki revises every cycle, if you memorize - PowerPoint

PowerPoint

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Genes in Human Populations - burden of genetic disease' is related to frequency and severity of genetic disorders ... (deleterious mutations may be removed by early death / lack of reproduction) ...

burden of genetic disease' is related to frequency and severity of genetic disorders ... (deleterious mutations may be removed by early death / lack of reproduction) ...

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Case Presentation: One month-old with conjugated hyperbilirubinemia PowerPoint PPT Presentation

Case Presentation: One month-old with conjugated hyperbilirubinemia - Case Presentation: One month-old with conjugated hyperbilirubinemia Case Presentation Male infant first noted to have hypoglycemia (D-stick in 40s) at 2 hours of life ...

Case Presentation: One month-old with conjugated hyperbilirubinemia Case Presentation Male infant first noted to have hypoglycemia (D-stick in 40s) at 2 hours of life ...

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Genetische screening PowerPoint PPT Presentation

Genetische screening - Title: PowerPoint Presentation Author: Evert Verhagen Last modified by: l.henneman Created Date: 12/1/2005 7:49:21 AM Document presentation format

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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PDUFA Needs to be More Orphan-Friendly PowerPoint PPT Presentation

PDUFA Needs to be More Orphan-Friendly - Any orphan designated product that does not qualify for a complete waiver of ... an FDA designated orphan drug approved by the FDA for the designated indication ...

Any orphan designated product that does not qualify for a complete waiver of ... an FDA designated orphan drug approved by the FDA for the designated indication ...

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Renal Tubular Acidosis PowerPoint PPT Presentation

Renal Tubular Acidosis - Renal Tubular Acidosis Normal Renal Function OUTLINE Renal tubular acidosis (RTA) is applied to a group of transport defects in the reabsorption of bicarbonate (HCO3 ...

Renal Tubular Acidosis Normal Renal Function OUTLINE Renal tubular acidosis (RTA) is applied to a group of transport defects in the reabsorption of bicarbonate (HCO3 ...

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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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The Impact of Tandem Mass Spectrometry Newborn Screening on the Presentation of Metabolic Disorders PowerPoint PPT Presentation

The Impact of Tandem Mass Spectrometry Newborn Screening on the Presentation of Metabolic Disorders - Central Nervous System Signs. Poor suck. Lethargy. Abnormal tone /loss of reflexes. Seizures ... Abnormal tone. Minor malformations. Family history of siblings ...

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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WELL CHILD CARE PowerPoint PPT Presentation

WELL CHILD CARE - WELL CHILD CARE The Newborn Exam and General Pediatric Screening. By Dr Chi Jokonya General Rules Get a good FHx for congenital problems Perinatal hx ie substance ...

WELL CHILD CARE The Newborn Exam and General Pediatric Screening. By Dr Chi Jokonya General Rules Get a good FHx for congenital problems Perinatal hx ie substance ...

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Renal Tubular Acidosis - Renal Tubular Acidosis ... interstitial disease Diagnosis First you must suspect RTA in patients with Unexplained bone disease Muscle weakness Nephrocalcinosis ...

Renal Tubular Acidosis ... interstitial disease Diagnosis First you must suspect RTA in patients with Unexplained bone disease Muscle weakness Nephrocalcinosis ...

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OBJECTIVES - l. u. c. o. s. i. d. a. s. e. Comparison of TSD with Gaucher ... Carnitine deficiencies. Peroxisomal disorders. Zellweger. Adrenoleukodystrophy. Refsum disease ...

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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Gastrointestinal Disorders I PowerPoint PPT Presentation

Gastrointestinal Disorders I - Familial/ syndromic DIAGNOSTIC EVALUATION - I GASTROINTESTINAL BLEEDING Swallowed maternal blood - Apt s test Gastric bleeding - gastroccult Rectal bleeding ...

Familial/ syndromic DIAGNOSTIC EVALUATION - I GASTROINTESTINAL BLEEDING Swallowed maternal blood - Apt s test Gastric bleeding - gastroccult Rectal bleeding ...

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PDUFA Needs to be More OrphanFriendly - Companies do not pay one-time application user fee for orphan drugs. Orphan drugs qualify for waivers of annual product and facility user fees if: ...

Companies do not pay one-time application user fee for orphan drugs. Orphan drugs qualify for waivers of annual product and facility user fees if: ...

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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 Disorders - Metabolic Disorders

Metabolic Disorders

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LC-MS INSTURMENTATION & APPLICATIONS PowerPoint PPT Presentation

LC-MS INSTURMENTATION & APPLICATIONS - views A full view of LC-MS; history,mass spectrum,mass spectrometer,HPLC,interface of LC-MS,mass spec instrumentation,applications.

views A full view of LC-MS; history,mass spectrum,mass spectrometer,HPLC,interface of LC-MS,mass spec instrumentation,applications.

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Transmission (Classical, Mendelian) Genetics Ch 11 PowerPoint PPT Presentation

Transmission (Classical, Mendelian) Genetics Ch 11 - Title: Transmission Genetics Author: mccc Last modified by: blinderl Created Date: 1/7/1998 2:06:00 PM Document presentation format: Letter Paper (8.5x11 in)

Title: Transmission Genetics Author: mccc Last modified by: blinderl Created Date: 1/7/1998 2:06:00 PM Document presentation format: Letter Paper (8.5x11 in)

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Patologia autosomico recessiva PowerPoint PPT Presentation

Patologia autosomico recessiva - Pi tardi severi danni cerebrali con convulsioni e ritardo mentale ... I danni fetali comprendono microcefalia, ritardo mentale, cardiopatie congenite, ...

Pi tardi severi danni cerebrali con convulsioni e ritardo mentale ... I danni fetali comprendono microcefalia, ritardo mentale, cardiopatie congenite, ...

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Hepatopulmonary Syndrome (HPS) PowerPoint PPT Presentation

Hepatopulmonary Syndrome (HPS) - ... in dyspnea in the upright position which improves in the recumbent position. ... of 10 mmHg in PaO2 when changing from the recumbent to the seated position. ...

... in dyspnea in the upright position which improves in the recumbent position. ... of 10 mmHg in PaO2 when changing from the recumbent to the seated position. ...

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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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Orphan Medicinal Products 2000 2004 PowerPoint PPT Presentation

Orphan Medicinal Products 2000 2004 - Application should demonstrate orphan criteria have been met: ... that the designation criteria are no longer met (Art 5.12 Reg 141/2000) ...

Application should demonstrate orphan criteria have been met: ... that the designation criteria are no longer met (Art 5.12 Reg 141/2000) ...

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Common Parathyroid Disorders in Children PowerPoint PPT Presentation

Common Parathyroid Disorders in Children - Common Parathyroid Disorders in Children Dr Sarar Mohamed FRCPCH (UK), MRCP (UK), CCST (Ire), CPT (Ire), DCH (Ire), MD Consultant Paediatric Endocrinologist ...

Common Parathyroid Disorders in Children Dr Sarar Mohamed FRCPCH (UK), MRCP (UK), CCST (Ire), CPT (Ire), DCH (Ire), MD Consultant Paediatric Endocrinologist ...

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Rickets - it is a general disorder of metabolism affecting chiefly the ... Formation of imperfectly ... cells in this layer bere mature, they containe alkaline ...

it is a general disorder of metabolism affecting chiefly the ... Formation of imperfectly ... cells in this layer bere mature, they containe alkaline ...

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Central nervous system malignancies PowerPoint PPT Presentation

Central nervous system malignancies - Title: PowerPoint Presentation Last modified by: UMB Created Date: 1/1/1601 12:00:00 AM Document presentation format: Pokaz na ekranie (4:3) Other titles

Title: PowerPoint Presentation Last modified by: UMB Created Date: 1/1/1601 12:00:00 AM Document presentation format: Pokaz na ekranie (4:3) Other titles

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Infant Nutrition I - Breastfeeding PowerPoint PPT Presentation

Infant Nutrition I - Breastfeeding - Infant Nutrition I - Breastfeeding B. Paul Choate, M.D. Fort Carson MEDDAC Infant Nutrition Objectives Recognize the benefits of breastfeeding Have a strategy to ...

Infant Nutrition I - Breastfeeding B. Paul Choate, M.D. Fort Carson MEDDAC Infant Nutrition Objectives Recognize the benefits of breastfeeding Have a strategy to ...

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The role of EMEA in Orphan Drug Development Thomas Lnngren, EMEA Stockholm, 15 February 2005 PowerPoint PPT Presentation

The role of EMEA in Orphan Drug Development Thomas Lnngren, EMEA Stockholm, 15 February 2005 - have the same rights as their fellow citizens to safe and effective therapies ... grants from Community & Member State programmes. Fee Reductions. reduction of ...

have the same rights as their fellow citizens to safe and effective therapies ... grants from Community & Member State programmes. Fee Reductions. reduction of ...

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Approach to IEM AA - PKU PowerPoint PPT Presentation

Approach to IEM AA - PKU - ... a positive newborn screen ? A) stop breast feeds B) change formula C) refer to a genetic centre D) repeat the screen What to do if initial screen positive?

... a positive newborn screen ? A) stop breast feeds B) change formula C) refer to a genetic centre D) repeat the screen What to do if initial screen positive?

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LMCC Review Course PowerPoint PPT Presentation

LMCC Review Course - LMCC Review Course Neonatology Brigitte Lemyre, MD, FRCPC

LMCC Review Course Neonatology Brigitte Lemyre, MD, FRCPC

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Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C - Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C

Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C

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The role of EMEA in Orphan Drug Development Thomas Lnngren, EMEA Stockholm, 15 February 2005 - have the same rights as their fellow citizens to safe and effective therapies ... Pedea for Patent Ductus Arteriosus. Photobarr for Barret's oesophagus ...

have the same rights as their fellow citizens to safe and effective therapies ... Pedea for Patent Ductus Arteriosus. Photobarr for Barret's oesophagus ...

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Perinatal HIV Prevention in the United States: Translating Research PowerPoint PPT Presentation

Perinatal HIV Prevention in the United States: Translating Research - by Year of Diagnosis, 1981 2002, United States ... Earl K. Long (Baton. Rouge) Jackson Memorial. Jackson North. Jackson South. Grady. MIRIAD Enrollment ...

by Year of Diagnosis, 1981 2002, United States ... Earl K. Long (Baton. Rouge) Jackson Memorial. Jackson North. Jackson South. Grady. MIRIAD Enrollment ...

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Susan Schayes M.D. PowerPoint PPT Presentation

Susan Schayes M.D. - Failure to Thrive Susan Schayes M.D. Emory Family Medicine Emory SOM * Failure to Thrive Acknowledge Shannon Pittmann * If you saw this baby, * This point ...

Failure to Thrive Susan Schayes M.D. Emory Family Medicine Emory SOM * Failure to Thrive Acknowledge Shannon Pittmann * If you saw this baby, * This point ...

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Newborn Screening in Maryland PowerPoint PPT Presentation

Newborn Screening in Maryland - Refinement of diagnosis and screening. One test identifies multiple disorders ! ... is a population based program ... Most parents don't read the long brochure ...

Refinement of diagnosis and screening. One test identifies multiple disorders ! ... is a population based program ... Most parents don't read the long brochure ...

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Liver Review PowerPoint PPT Presentation

Liver Review - Liver Review Vic Vernenkar, D.O. St. Barnabas Hospital Bronx, NY Major Structures and Landmarks Glisson s capsule: the peritoneal lining that surrounds the liver.

Liver Review Vic Vernenkar, D.O. St. Barnabas Hospital Bronx, NY Major Structures and Landmarks Glisson s capsule: the peritoneal lining that surrounds the liver.

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Autoimmune Hepatitis PowerPoint PPT Presentation

Autoimmune Hepatitis - Autoimmune Hepatitis-Chronic hepatitis with immunologic abnormalities-Histologic features are similar to chronic viral hepatitis-Indolent or severe course

Autoimmune Hepatitis-Chronic hepatitis with immunologic abnormalities-Histologic features are similar to chronic viral hepatitis-Indolent or severe course

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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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Formulas, Breastfeeding, and other juicy stuff PowerPoint PPT Presentation

Formulas, Breastfeeding, and other juicy stuff - Formulas, Breastfeeding, and other juicy stuff. Milk: The Principal Source of ... Consume 120 to 150 cc/kg/day. Human and Most Standard infant formulas: 67kcal/100cc ...

Formulas, Breastfeeding, and other juicy stuff. Milk: The Principal Source of ... Consume 120 to 150 cc/kg/day. Human and Most Standard infant formulas: 67kcal/100cc ...

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Chem 454: Biochemistry II PowerPoint PPT Presentation

Chem 454: Biochemistry II - Amino acids are also a source of nitrogen for other biomolecules. ... Ammonium Ion Ammonium ion is converted into urea in most terrestrial vertebrates 4.

Amino acids are also a source of nitrogen for other biomolecules. ... Ammonium Ion Ammonium ion is converted into urea in most terrestrial vertebrates 4.

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CIRRHOSIS OF LIVER PowerPoint PPT Presentation

CIRRHOSIS OF LIVER - CIRRHOSIS OF LIVER Dr.Vemuri Chaitanya Portal Hypertension Portal HTN directly responsible for 2 complications variceal haemorrhage and ascites Also hypersplenism ...

CIRRHOSIS OF LIVER Dr.Vemuri Chaitanya Portal Hypertension Portal HTN directly responsible for 2 complications variceal haemorrhage and ascites Also hypersplenism ...

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Tyrosinemia PowerPoint PPT Presentations