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Citrullinemia

  • Hyperammonemia in Review: Pathophysiology, Diagnosis, and Treatment

    Hyperammonemia in Review: Pathophysiology, Diagnosis, and Treatment

  • Inherited Metabolic Disease

    Inherited Metabolic Disease

  • Summary Current Practices Report

    Summary Current Practices Report

  • Argininosuccinate Lyase Deficiency

    Argininosuccinate Lyase Deficiency

  • What Disorders Are Screened for by the Newborn Screen?

    What Disorders Are Screened for by the Newborn Screen?

  • Ex Vivo Gene Therapy: a “Cultured” Surgical Approach to Curing Inherited Liver Disease

    Ex Vivo Gene Therapy: a “Cultured” Surgical Approach to Curing Inherited Liver Disease

  • Commentary To: Suitability of Nitisinone in Alkaptonuria 2

    Commentary To: Suitability of Nitisinone in Alkaptonuria 2

  • Amino Acid Metabolism Disorders and PAH Gene Mutations In

    Amino Acid Metabolism Disorders and PAH Gene Mutations In

  • Tyrosinemia Type 1: a Case Report

    Tyrosinemia Type 1: a Case Report

  • Citrullinemia Information for Health Professionals

    Citrullinemia Information for Health Professionals

  • Emergency Management Protocol for Newborns with Elevated Citrulline

    Emergency Management Protocol for Newborns with Elevated Citrulline

  • Expanded Newborn Screening

    Expanded Newborn Screening

  • Texas Newborn Screening Panel

    Texas Newborn Screening Panel

  • David Sesser BA, Sharon Willis BS, Sara Dennison BS, Cheryl Hermerath MBA, Michael Skeels Phd

    David Sesser BA, Sharon Willis BS, Sara Dennison BS, Cheryl Hermerath MBA, Michael Skeels Phd

  • Positive Newborn Screens: What Do You Do Next?

    Positive Newborn Screens: What Do You Do Next?

  • Newborn Blood Spot Screening.Pdf (Download)

    Newborn Blood Spot Screening.Pdf (Download)

  • 1 a Clinical Approach to Inherited Metabolic Diseases

    1 a Clinical Approach to Inherited Metabolic Diseases

  • 1 Firstehg.Indd

    1 Firstehg.Indd

Top View
  • Inborn Errors of Metabolism
  • Lysinuric Protein Intolerance. Basolateral Transport Defect in Renal Tubuli
  • Amino Acid Metabolism Disorders
  • 11 Inherited Hyperammonaemias James V
  • A Brief Review on Citrullinemia Type1: a Urea Cycle Disorder Venkatesh HA* Consultant Neonatologist, Manipal Hospital, Bangalore, India *Corresponding Author: Dr
  • Care for Children with Rare Metabolic Disorders Lindsay C
  • Molecular Diagnosis of Urea Cycle Disorders: Current Global Scenario
  • Abbreviations and Alternate Names for the Additional Newborn Screening Disorders
  • Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
  • Screening for Tyrosinaemia I External Review Against Programme Appraisal Criteria for the UK National Screening Committee (UK NSC)
  • Anaesthesia Recommendations for Urea Cycle Disorders
  • ORPHA Number Disease Or Group of Diseases 300305 11P15.4
  • Amino Acid Transport Defects in Human Inherited Metabolic Disorders
  • Newborn Screening ACT Sheet [Increased Citrulline]
  • Disease Name Citrullinemia Type II
  • Guidelines for Propionic Acidemia and Methylmalonic Academia Patients Undergoing Liver Transplant
  • Citrullinemia/Argininosuccinic Aciduria – Amino Acid Disorders
  • UCD GUIDELINE – 1St REVISION 2018


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