Add this result to my export selection 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, ... Read Summary Type: Guidance (Add filter)
Add this result to my export selection BIMDG protocol: management of a baby at risk of a urea cycle disorder (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 23 November 2009 This guidance addresses the management of the at-risk child during pregnancy and at birth. The following steps should be undertaken: A careful history is essential and should be reviewed by a... Read Summary Type: Guidance (Add filter)
Add this result to my export selection A framework of operating principles for managing invited reviews within healthcare (PDF) Source: Academy of Medical Royal Colleges (Remove filter) Published by Academy of Medical Royal Colleges, 01 January 2016 For some years, Royal Colleges and professional bodies involved in supporting the delivery of clinical care have offered a number of services to healthcare organisations to provide them with... Read Summary Type: Guidance (Add filter)
Add this result to my export selection 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... Read Summary Type: Guidance (Add filter)
Add this result to my export selection 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... Read Summary Type: Guidance (Add filter)
Add this result to my export selection 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... Read Summary Type: Guidance (Add filter)
Add this result to my export selection 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 Read Summary Type: Guidance (Add filter)
Add this result to my export selection Organ donation from infants with anencephaly : guidance from the UK Donation Ethics Committee (PDF) Source: Academy of Medical Royal Colleges (Remove filter) Published by Academy of Medical Royal Colleges, 16 February 2016 Anencephaly is a neural tube defect (NTD) that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th days of pregnancy, resulting in the absence... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Appraisal for revalidation : a guide to the process (PDF) Source: Academy of Medical Royal Colleges (Remove filter) Published by Academy of Medical Royal Colleges, 01 July 2014 This document will be helpful to doctors preparing for their appraisal so that they know what to expect from from their appraiser. It also provides guidance to appraisers on key elements that may... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Guidance for taking responsibility : accountable clinicians and informed patients (PDF) Source: Academy of Medical Royal Colleges (Remove filter) Published by Academy of Medical Royal Colleges, 01 June 2014 The Francis Report made a number of recommendations on the need for there to be a named clinician who is accountable for a patient’s care whilst they are in hospital. In addition the Secretary of... Read Summary Type: Guidance (Add filter)