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4518Estimate Value
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Type I glycogen storage disease - BMJ Best Practice
WEBJan 16, 2024 · Definition. Type I glycogen storage disease (GSD I) is a disorder of endogenous glucose production. It usually presents during the first year of life, with symptomatic hypoglycaemia when an infant's feeding interval is increased or normal feeding is disrupted by acute illness. Clinical features at presentation typically include …
Bestpractice.bmj.comCommon hereditary lysosomal storage diseases - BMJ Best …
WEBSep 27, 2024 · Summary. Hereditary lysosomal storage disorders are a group of diverse inherited disorders that arise from deficiency of enzymes required for the breakdown of products of intermediary metabolism. Diagnosis depends on a high index of suspicion, and is easily made by biochemical test or mutational analysis. Tissue biopsy is rarely …
Bestpractice.bmj.comSymptoms, diagnosis and treatment - BMJ Best Practice
WEBSep 20, 2024 · Non-diabetic hypoglycaemia may commonly present with symptoms such as nausea, confusion, tremor, sweating, palpitations, or hunger. Patients may present with a non-specific clinical history. Documentation of a blood glucose <3.3 mmol/L (<60 mg/dL) with accompanying symptoms is crucial to diagnosing clinically significant hypoglycaemia.
Bestpractice.bmj.comSymptoms, diagnosis and treatment - BMJ Best Practice
WEBDec 21, 2021 · Definition. The term renal tubular acidosis (RTA) describes a group of disorders of acid-base homeostasis, in which the primary impairment is the excretion of fixed acid (distal RTA) or the reabsorption of filtered bicarbonate (proximal RTA). [1] The acid retention or bicarbonate loss results in hyperchloremic metabolic acidosis marked …
Bestpractice.bmj.comSymptoms, diagnosis and treatment - BMJ Best Practice
WEBDec 21, 2021 · The term renal tubular acidosis (RTA) describes a group of disorders of acid-base homeostasis, in which the primary impairment is the excretion of fixed acid (distal RTA) or the reabsorption of filtered bicarbonate (proximal RTA). [1] The acid retention or bicarbonate loss results in hyperchloraemic metabolic acidosis marked by low serum
Bestpractice.bmj.comEvaluation of acute motor deficit - BMJ Best Practice
WEBJul 9, 2024 · Summary. Acute motor deficits occur when there is either a sudden loss of connectivity between the central nervous system (CNS) and the muscles or there is dysfunction of the muscles themselves. Loss of connection can occur anywhere from the CNS to the motor-end plate. Careful questioning of people who report sudden motor loss …
Bestpractice.bmj.comChlamydia pneumoniae infection - BMJ Best Practice
WEBOct 25, 2022 · Chlamydia pneumoniae is a bacterial respiratory pathogen that is a frequent cause of community-acquired pneumonia in children and adults. An obligate intracellular bacterium that can only be isolated in tissue culture, although culture is not widely available. Infection can be diagnosed using nucleic acid amplification tests and two FDA
Bestpractice.bmj.comSymptoms, diagnosis and treatment - BMJ Best Practice US
WEBFeb 14, 2023 · Head of Division of Metabolic Diseases and Nutritional Medicine. Dr von Hauner Children's Hospital. Ludwig-Maximilians-University of Munich. Lindwurmstr. Germany. Disclosures. BK has received research support from Danone Medical Nutrition and is the recipient of a Freedom to Discover Award of the Bristol Myers Squibb …
Bestpractice.bmj.comBiliary atresia - Symptoms, diagnosis and treatment - BMJ Best …
WEBSep 12, 2023 · Biliary atresia is a serious disease requiring prompt early diagnosis preferably before age 6-8 weeks. A fibro-obliterative obstruction of the extrahepatic biliary tree progressing to intrahepatic ducts, which can develop in utero or during the neonatal period. Presentation may include jaundice, pale stools, or hepatomegaly. Biliary atresia
Bestpractice.bmj.comGenetics - BMJ Best Practice
WEBType I glycogen storage disease. V. Von Willebrand disease. W. Wilson disease. Wiskott-Aldrich syndrome. X. Xeroderma pigmentosum. Browse BMJ Best Practice genetics specialty and related medical content to help you make evidence-based clinical decisions.
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