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  • Uveal melanoma national guidelines

    Source:
    Melanoma Focus (Remove filter)

    Published by Uveal Melanoma Guideline Development Group;Melanoma Focus, 01 January 2015

    The aim of these uveal melanoma guidelines is to optimise patient care by providing recommendations based on the best available scientific evidence. These guidelines should assist the planning of...

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    Type:
    Guidance (Add filter)
  • Ketotic hypoglycaemia (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 22 May 2013

    Ketotic hypoglycaemia is a poorly understood condition that most commonly affects young children between the ages of one and five years.  The history is characteristic.  A toddler who is unwell...

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    Type:
    Guidance (Add filter)
  • Glut 1 deficiency (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 01 February 2012

    Children with GLUT1 deficiency have an impaired glucose transport into the brain and glucose  levels in CSF are low (hypoglychorrhachia). As a result, seizures and secondary microcephaly  are...

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    Type:
    Guidance (Add filter)
  • Carnitine transporter deficiency (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2009

    Carnitine transporter deficiency usually presents with cardiomyopathy and muscle weakness. It responds well to carnitine supplementation and for most of the time patients are healthy.  However...

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    Type:
    Guidance (Add filter)
  • Citrin deficiency protocol (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2012

    This protocol provides recommendations for the emergency assessment and treatment of citrin deficiency (also known as Citrullinaemia type 2) Last revised January 2017

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    Type:
    Guidance (Add filter)
  • Hyperammonaemia: urea cycle disorders - citrullinaemia and argininosuccinic aciduria (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 22 March 2012

    The urea cycle converts ammonia into urea and defects of all the steps are now well documented. All cause hyperammonaemia, albeit to varying degrees, is associated with other metabolic...

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    Type:
    Guidance (Add filter)
  • HMG CoA Lyase deficiency (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2008

      3-hydroxy-3-methyl Glutaryl CoA lyase deficiency is a disorder of ketone synthesis. This enzyme is also on the leucine breakdown pathway. For most of the time patients are healthy & do  not...

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    Type:
    Guidance (Add filter)

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