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    Metabolic Acidosis Professional

    Metabolic Acidosis, It is important to remember that metabolic acidosis is not a diagnosis; rather, it is a metabolic derangement that indicates underlying disease(s) as a c...

    Metabolic Syndrome Professional

    Metabolic Syndrome, How useful is the concept of metabolic syndrome? More recently, the usefulness of the 'metabolic syndrome' concept ...

    Fragile X Syndrome Professional

    Fragile X Syndrome, In the most common form of the condition, the CGG sequence is repeated more than 200 times. The metabolic result of this is to block production of a subs...

    Microvascular Angina (Cardiac Syndrome X) Conditions

    Microvascular Angina (Cardiac Syndrome X), What is cardiac syndrome X? Cardiac syndrome X (CSX) is thought to be a type of angina . In CSX you...

    X-linked Lymphoproliferative Syndrome Professional

    X-linked Lymphoproliferative Syndrome, Synonyms: XLP, Duncan's disease, familial fatal Epstein-Barr virus infection, Purtilo's syndrome This X-linked inh...

    Antiphospholipid Syndrome (Hughes' Syndrome) Conditions

    Antiphospholipid Syndrome (Hughes' Syndrome), What is antiphospholipid syndrome? Antiphospholipid syndrome (APS) - also called Hughes' syndrome ...

    Reye's Syndrome Professional

    Reye's Syndrome, There are a number of metabolic events that occur secondary to Reye's syndrome and these may be reflected in the blood biochemistry - eg, very high ...

    Klinefelter's Syndrome Professional

    Klinefelter's Syndrome, Other features may include tiredness, reduced muscle power and stamina, and truncal obesity (which may be associated with metabolic syndrome). ...

    Rett Syndrome Professional

    Rett Syndrome, Angelman's syndrome . Prader-Willi syndrome . Metabolic abnormalities, - eg, organic acidoses. Autism . , rett syn...

    Crush Syndrome Professional

    Crush Syndrome, This can also lead to: Metabolic acidosis (release of cellular phosphate and sulphate by the injured muscle cells). Acute kidney injury. , major trauma cr...

    Mendelson's Syndrome Professional

    Mendelson's Syndrome, Falling arterial oxygen. Metabolic acidosis, which is severe (usually develops later). Infection (this is not usually a feature). , mendelsons ...

    Asperger's Syndrome Professional

    Asperger's Syndrome, Genome-wide linkage studies suggested linkages on chromosomes 2q, 7q, 15q and 16p as the location of susceptibility genes. Metabolic errors including phen...

    Microvascular Angina (Cardiac Syndrome X) Professional

    Microvascular Angina (Cardiac Syndrome X), Synonyms: microvascular angina Microvascular Angina (previously known as Cardiac syndrome X (CSX)) is characterise...

    Klinefelter's Syndrome Conditions

    Klinefelter's Syndrome, Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. , genetic disorders tes...

    Turner Syndrome Conditions

    Turner Syndrome, Turner syndrome chromosomes Girls and women with Turner syndrome have only one X chromosome. The karyotype is therefore said to be 46,X or 46,XO...

    Marfan Syndrome Conditions

    Marfan Syndrome, Three in four people who have Marfan syndrome have a parent who also has Marfan syndrome. You can inherit Marfan syndrome from just one of your par...

    Hypermobility Syndrome Conditions

    Hypermobility Syndrome, However, if your doctor still needs to rule out other conditions like arthritis then blood tests or X-rays may be needed. How is benign joint hypermobility...

    Ehlers-Danlos Syndrome Conditions

    Ehlers-Danlos Syndrome, Classical-like Ehlers-Danlos syndrome This is also called tenascin-X deficient Ehlers-Danlos syndrome (clEDS). This very rare condition is simi...

    Renal Fanconi Syndrome Professional

    Renal Fanconi Syndrome, Some cases are inherited, but the mode of inheritance appears to be variable (autosomal-dominant, autosomal-recessive, X-linked). [ 4 ] Secondary: cystino...

    Cri du Chat Syndrome Conditions

    Cri du Chat Syndrome, Further tests will be needed to assess any features associated with cri du chat syndrome (eg, a  skull X-ray and a  magnetic resonance imagi...

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