Sökning: "Hunter syndrome"

Hittade 3 avhandlingar innehållade orden Hunter syndrome.

  1. 1. The Importance of Remission in the Treatment of Patients with Schizophrenia Spectrum Syndromes : Clinical Long-term Investigation of Psychosis in Sweden

    Författare :Lars Helldin; Torsten Norlander; Leif Lindström; Robert Hunter; Karlstads universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Schizophrenia spectrum syndrome; functional outcome; quality of life; neurocognitive performance and need of care; medicinsk psykologi; Psychology; Psykologi; Psykologi; Psychology;

    Sammanfattning : The goal of this thesis was to investigate the hypothesis whether symptomatic remission for patents with schizophrenia spectrum syndrome would provide practical and qualitative benefits for patients and for society. The first work (Paper I) examines the relationship between cross-sectional remission and the patients’ practical resources. LÄS MER

  3. 2. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man

    Författare :Stanislav L. Karsten; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. LÄS MER

  4. 3. Genomic rearrangements at the cause of three genetic disorders in man

    Författare :Kristina Lagerstedt; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER