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  • Guidance on long term consequences of treatment for gynaecological cancer. Part 1: Pelvic radiotherapy (PDF)

    Source:
    Macmillan Cancer Support (Remove filter)
    Source:
    Society of Radiographers - SOR (Add filter)

    Published by Society of Radiographers (SCoR);Macmillan Cancer Support, 29 June 2014

    This document is aimed at UK gynaecological oncology professionals but will also be useful to anyone, including primary care professionals, involved in the care of women at any time before or after...

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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)
  • MCAD deficiency : management of newborn babies with a family history (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 10 July 2012

     MCAD deficiency is an inherited disorder of fat breakdown and one of the commonest inborn errors of metabolism. Most of the time patients are healthy and do not require a special diet. Infections, ...

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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)
  • Undiagnosed hyperammonaemia (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 10 August 2008

    Plasma ammonia concentrations are often a cause for concern and treatment may be very urgent. The symptoms are highly variable. Neonates often have an overwhelming illness, although respiratory...

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    Type:
    Guidance (Add filter)

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