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LIPID METABOLISM, INBORN ERRORS --- CENTRAL NERVOUS SYSTEM DISEASES --- ETIOLOGY

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Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients. Table of Contents: • Fatty acid metabolism • Epidemiology and genetics • Clinical presentation • Diagnosis • Genetic counseling, newborn screening and patient support

Physiology of nutrition. Metabolism --- Lipids --- Lipid Metabolism, Inborn Errors. --- Fatty Acids --- Metabolism --- Disorders. --- metabolism.

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"Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. Patients with FCS often experience severe symptoms, the most feared of which is acute, potentially life-threatening, pancreatitis. This resource is intended to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the aim of earlier diagnosis and management, thus preventing some of the more devastating physical, neurological and cognitive symptoms of the disorder"--

Gastroenterology --- Lipids --- Genetic disorders. --- Medical genetics. --- Hyperlipoproteinemia Type I --- Lipid Metabolism, Inborn Errors --- Chylomicrons --- Genetic Diseases, Inborn --- Genetics, Medical --- Metabolism --- Disorders. --- Hyperlipoproteinemia Type I. --- Lipid Metabolism, Inborn Errors. --- Chylomicrons. --- Genetic Diseases, Inborn. --- Genetics, Medical.

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"Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. Patients with FCS often experience severe symptoms, the most feared of which is acute, potentially life-threatening, pancreatitis. This resource is intended to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the aim of earlier diagnosis and management, thus preventing some of the more devastating physical, neurological and cognitive symptoms of the disorder"--

Genetic Diseases, Inborn. --- Lipids --- Genetic disorders. --- Medical genetics. --- Hyperlipoproteinemia Type I --- Lipid Metabolism, Inborn Errors --- Chylomicrons --- Genetic Diseases, Inborn --- Genetics, Medical --- Metabolism --- Disorders.

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Lipidoses. --- Nervous system --- Cerebral Sclerosis, Diffuse. --- Lipoidosis. --- Metabolism --- Disorders. --- Diffuse Cerebral Sclerosis of Schilder. --- Brain Diseases, Metabolic. --- Lipid Metabolism, Inborn Errors. --- Lipidoses --- -Organs (Anatomy) --- Neurosciences --- Lipid storage diseases --- Lipid storage disorders --- Lipidosis --- Lipoidosis --- Lipids --- Lipid Metabolism, Inborn Error --- Acquired Metabolic Diseases, Brain --- Acquired Metabolic Diseases, Nervous System --- Acquired Metabolic Encephalopathies --- Brain Diseases, Metabolic, Acquired --- Brain Disorders, Metabolic --- Brain Disorders, Metabolic, Acquired --- Brain Syndrome, Metabolic --- Brain Syndrome, Metabolic, Acquired --- CNS Metabolic Disorders --- CNS Metabolic Disorders, Acquired --- Encephalopathy, Metabolic, Acquired --- Metabolic Brain Diseases --- Metabolic Brain Diseases, Acquired --- Metabolic Brain Syndrome --- Metabolic Brain Syndrome, Acquired --- Metabolic Brain Syndromes --- Metabolic Brain Syndromes, Acquired --- Metabolic Diseases, Acquired, Nervous System --- Metabolic Disorder, Central Nervous System, Acquired --- Metabolic Disorders, CNS --- Metabolic Disorders, CNS, Acquired --- Metabolic Disorders, Central Nervous System --- Metabolic Encephalopathies --- Nervous System Acquired Metabolic Diseases --- Central Nervous System Metabolic Disorders --- Encephalopathies, Metabolic --- Metabolic Disorders, Brain --- Acquired Metabolic Encephalopathy --- Brain Disease, Metabolic --- Brain Disorder, Metabolic --- Brain Metabolic Disorder --- Brain Metabolic Disorders --- CNS Metabolic Disorder --- Encephalopathies, Acquired Metabolic --- Encephalopathy, Acquired Metabolic --- Encephalopathy, Metabolic --- Metabolic Brain Disease --- Metabolic Brain Disorder --- Metabolic Brain Disorders --- Metabolic Disorder, Brain --- Metabolic Disorder, CNS --- Metabolic Encephalopathies, Acquired --- Metabolic Encephalopathy --- Metabolic Encephalopathy, Acquired --- Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis --- Alpers Disease --- Alpers Progressive Infantile Poliodystrophy --- Alpers' Disease --- Alpers' Syndrome --- Alpers-Huttenlocher Syndrome --- Balo's Concentric Sclerosis --- Encephalitis Periaxialis Concentrica --- Encephalitis Periaxialis Diffusa --- Neuronal Degeneration Of Childhood With Liver Disease, Progressive --- Progressive Neuronal Degeneration of Childhood with Liver Disease --- Progressive Sclerosing Poliodystrophy --- Schilder's Disease --- Sudanophilic Cerebral Sclerosis --- Alpers Syndrome --- Balo Concentric Sclerosis --- Cerebral Sclerosis, Diffuse --- Encephalitis Periaxialis --- Myelinoclastic Diffuse Sclerosis --- Poliodystrophia Cerebri --- Schilder Disease --- Alper Disease --- Alper Syndrome --- Alper's Disease --- Alper's Syndrome --- Alpers Huttenlocher Syndrome --- Concentric Sclerosis, Balo --- Concentric Sclerosis, Balo's --- Diffuse Cerebral Scleroses --- Diffuse Cerebral Sclerosis --- Diffuse Scleroses, Myelinoclastic --- Diffuse Sclerosis, Myelinoclastic --- Disease, Alpers' --- Disease, Schilder --- Disease, Schilder's --- Myelinoclastic Diffuse Scleroses --- Progressive Sclerosing Poliodystrophies --- Schilders Disease --- Scleroses, Balo's Concentric --- Scleroses, Myelinoclastic Diffuse --- Sclerosis, Diffuse Cerebral --- Sclerosis, Myelinoclastic Diffuse --- Syndrome, Alpers --- Syndrome, Alpers-Huttenlocher --- -Disorders --- Disorders --- -Metabolism --- Brain Diseases, Metabolic --- Diffuse Cerebral Sclerosis of Schilder --- Lipid Metabolism, Inborn Errors --- Organs (Anatomy) --- Metabolism&delete&