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DPAGT1 deficiency w...
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
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- Ng, Bobby G. (author)
- Sanford Burnham Prebys Medical Discovery Institute
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- Underhill, Hunter R. (author)
- University of Utah
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- Palm, Lars (author)
- Skåne University Hospital
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- Bengtson, Per (author)
- Skåne University Hospital
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- Rozet, Jean Michel (author)
- Paris Descartes University
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- Gerber, Sylvie (author)
- Paris Descartes University
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- Munnich, Arnold (author)
- Necker-Enfants Malades Hospital,Paris Descartes University
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- Zanlonghi, Xavier (author)
- Jules Verne Clinic, Nantes
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- Stevens, Cathy A. (author)
- University of Tennessee
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- Kircher, Martin (author)
- University of Washington
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- Nickerson, Deborah A. (author)
- University of Washington
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- Buckingham, Kati J. (author)
- University of Washington
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Josephson, Kevin D. (author)
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- Shendure, Jay (author)
- University of Washington
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- Bamshad, Michael J. (author)
- University of Washington
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- Freeze, Hudson H. (author)
- Gundersen Health System
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- Eklund, Erik A. (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Sanford Burnham Prebys Medical Discovery Institute
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(creator_code:org_t)
- 2018-08-17
- 2018
- English 8 s.
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In: JIMD Reports. - Berlin, Heidelberg : Springer Berlin Heidelberg. - 2192-8312 .- 2192-8304. ; 44, s. 85-92
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http://dx.doi.org/10...
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https://europepmc.or...
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Abstract
Subject headings
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- Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Publication and Content Type
- kap (subject category)
- ref (subject category)
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- By the author/editor
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Ng, Bobby G.
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Underhill, Hunte ...
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Palm, Lars
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Bengtson, Per
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Rozet, Jean Mich ...
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Gerber, Sylvie
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Munnich, Arnold
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Zanlonghi, Xavie ...
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Stevens, Cathy A ...
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Kircher, Martin
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Nickerson, Debor ...
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Buckingham, Kati ...
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Josephson, Kevin ...
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Shendure, Jay
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Bamshad, Michael ...
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Freeze, Hudson H ...
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Eklund, Erik A.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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JIMD Reports
- By the university
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Lund University