دورية أكاديمية
An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia
| العنوان: | An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia |
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| المؤلفون: | Calvo, Pier Luigi, Spada, Marco, Rabbone, Ivana, Pinon, Michele, Porta, Francesco, Cisarò, Fabio, Reggiani, Stefania, Cefalù, Angelo B, Sturiale, Luisella, Garozzo, Domenico, Lefeber, Dirk J, Jaeken, Jaak |
| المساهمون: | Calvo, P., Spada, M., Rabbone, I., Pinon, M., Porta, F., Cisarò, F., Reggiani, S., Cefalu', A., Sturiale, L., Garozzo, D., Lefeber, D., Jaeken, J. |
| بيانات النشر: | Springer |
| سنة النشر: | 2018 |
| المجموعة: | IRIS Università degli Studi di Palermo |
| مصطلحات موضوعية: | CDG-II, Hypercholesterolemia, Hypoceruloplasminemia, Neurohepatic involvement, Settore MED/09 - Medicina Interna |
| الوصف: | We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since the biological parents of this adopted child were not available. ; We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since the biological parents of this adopted child were not available. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/28643274; info:eu-repo/semantics/altIdentifier/wos/WOS:000460679400014; volume:38; firstpage:97; lastpage:100; numberofpages:4; journal:JIMD REPORTS; http://hdl.handle.net/10447/247988Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85060337887 |
| DOI: | 10.1007/8904_2017_35 |
| الإتاحة: | https://doi.org/10.1007/8904_2017_35Test http://hdl.handle.net/10447/247988Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.3014CC0D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/8904_2017_35 |
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