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62 Possible Causes for Mucopolysaccharidosis 1H

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder. METHODS: We treated 10 patients with mucopolysaccharidosis I[…][]

  • Mucopolysaccharidosis 7

    1H/S (IDUA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis 2 (IDS) * Sequencing (complete) & MLPA EDTA blood 2-3 weeks Mucopolysaccharidosis 3A[] Sequencing (complete) EDTA blood / DNA 1. 1-2weeks 2. 2-3weeks Metachromatic Leukodystrophy (ARSA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis[]

  • Mucopolysaccharidosis 6

    Maroteaux–Lamy syndrome is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). [2] It is named after Pierre Maroteaux (1926–) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians. [3] [4] Symptoms [ edit ] Children with Maroteaux–Lamy syndrome usually have[…][]

  • Mucopolysaccharidosis 1S

    Mucopolysaccharidosis 5 is nowadays referred to as mucopolysaccharidosis 1S or Scheie syndrome. Mucopolysaccharidosis 5 is now classified as a form of mucopolysaccharidosis 1, referred to as mucopolysaccharidosis 1S (MPS1S) or Scheie syndrome. MPS1S is the mildest form of mucopolysaccharidosis 1.[]

  • Mucopolysaccharidosis 3

    The European Union Clinical Trials Register allows you to search for protocol and results information on: interventional clinical trials that are conducted in the European Union (EU) and the European Economic Area (EEA); clinical trials conducted outside the EU / EEA that are linked to European paediatric-medicine[…][]

  • Fucosidosis

    General Description Fucosidosis is caused by the lack of the enzyme alpha-fucosidase. There are two different types of fucosidosis. They are characterized by the age of onset and type of physical and mental manifestations. Type I usually presents in the first 3–18 months of life with features typical of lysosomal[…][]

  • Spondyloepiphyseal Dysplasia

    A sibship is reported in which two of three children developed a symmetrical polyarthropathy associated with a mild spondyloepiphyseal dysplasia. Although the physical findings resembled juvenile arthritis, laboratory investigations for inflammatory disease were entirely negative. Molecular studies in members of this[…][]

  • Beckwith-Wiedemann Syndrome

    This report describes for the first time the association of Beckwith-Wiedemann syndrome (BWS) and hypothyroidism in a 25 weeks preterm neonate. Antenatal diagnosis of exomphalos in association with postnatal transient hypoglycemia and macroglossia formed the basis of the diagnosis of BWS. Primary hypothyroidism[…][]

  • Cardiomyopathy

    BACKGROUND: Coronary artery fistula, first described by Krause in 1865, is an abnormal communication between the coronary artery and one of the four chambers of the heart or one of the great vessels. The communications are often congenital but may also be acquired from trauma or invasive cardiovascular[…][]

  • Coronary Artery Disease

    Coronary artery disease occurs when a substance called plaque builds up in the arteries that supply blood to the heart (called coronary arteries). Plaque is made up of cholesterol deposits, which can accumulate in your arteries. When this happens, your arteries can narrow over time. This process is called[…][]

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