Results 191 to 200 of about 3,013 (227)
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Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb
Journal of Human Genetics, 2018This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. The siblings visited our hospital due to "pulmonary infection". Facial dysmorphism including long eyelashes, blepharophimosis, depressed nasal bridge, and high palate ...
Min Li +4 more
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European Journal of Paediatric Neurology, 2001
Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history
Briones P +8 more
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Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history
Briones P +8 more
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[Congenital Disorders of Glycosylation (CDG)].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2008P, de Lonlay +4 more
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Congenital disorders of glycosylation (CDG): It's all in it!
Journal of Inherited Metabolic Disease, 2003AbstractSummary: Congenital disorders of glycosylation (CDGs) are due to defects in the synthesis of the glycan moiety of glycoproteins or other glycoconjugates. This review is devoted mainly to the clinical aspects of protein glycosylation defects. There are two main types of protein glycosylation: N‐glycosylation and O‐glycosylation.
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Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Journal of Inherited Metabolic Disease, 2011AbstractCongenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled ‘Congenital disorders of glycosylation CDG): It's all in it!’.
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Congenital Disorders of Glycosylation (CDG): from glycoproteins to patient care
2012Carbohydrates are at the forefront of Congenital Disorders of Glycosylation (CDG), a rapidly growing family of genetic diseases with more than 50 members identified at the molecular and biochemical level since the first clinical description in 1980.
Vanessa Ferreira +2 more
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
exaly
The prenatal diagnosis of congenital disorders of glycosylation (CDG)
Prenatal Diagnosis, 2004Gert, Matthijs +2 more
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[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
Duodecim; laaketieteellinen aikakauskirja, 2016Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well.
Heli, Sätilä +4 more
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Congenital Disorders of Glycosylation (CDG): Update and Perspectives
Current Pediatric Reviews, 2006Renate Zeevaert +4 more
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