Results 71 to 80 of about 62,038 (258)
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
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Nutrition Reviews, 2009 Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
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LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
, 1983 A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper +15 more
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Journal of Lipid ResearchThe gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero +9 more
doaj +1 more source
Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]
, 2019 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant +40 more
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LABRAD : Vol 41, Issue 3 - December 2015 [PDF]
, 2015 Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
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Unravelling new pathways of sterol metabolism [PDF]
, 2017 Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem +23 more
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CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved
Neurobiology of Disease, 2009 In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
doaj +1 more source
Dysmorphology of inborn errors of metabolism [PDF]
Molecular Cytogenetics, 2014 As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire +3 more sources