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Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment

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  1. Adult Growth Hormone Deficiency: from Transition to Senescence

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  2. Clinical care of adult Turner syndrome--new aspects

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  3. Surgical treatment and follow up on undescended testis

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  4. The role of growth hormone in the pathogenesis of diabetic kidney disease

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  1. Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

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  2. l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

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  3. Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults

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Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. It has been described in humans, cattle, domestic cats, mice and guinea pigs. In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections and immune deficiency. This review provides detailed information regarding the variability of manifestations and a description of current treatment and treatment under investigation for alpha-mannosidosis. The pathology, genetics and clinical pictures, including impairments in the activity of daily living are discussed.

Original languageEnglish
JournalPediatric Endocrinology Reviews
Volume12 Suppl 1
Pages (from-to)185-91
Number of pages7
ISSN1565-4753
Publication statusPublished - Sep 2014

    Research areas

  • Enzyme Replacement Therapy, Hearing Loss, Hematopoietic Stem Cell Transplantation, Humans, alpha-Mannosidosis

ID: 45086588