Recent Publications on Carbohydrate-Deficient Glycoprotein Syndrome: |  |
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
Congenital disorder of glycosylation type I (CDG I) represent a rapidly...
Direct Link | 10th September, 2008
| Laboratory of Paediatrics and Neurology, Department of Paediatrics,
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Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.
Congenital disorder of glycosylation (CDG) type Ia (PMM2 mutations) is the...
Direct Link | 4th September, 2008
| Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy.
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The skeletal manifestations of the congenital disorders of glycosylation.
The congenital disorders of glycosylation (CDG) are a rapidly expanding...
Direct Link | 24th July, 2008
| Genetic Health Services Victoria, Melbourne, Australia.
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Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib.
BACKGROUND: A 22-year-old female presented with edema, diarrhea,...
Direct Link | 18th June, 2008
| Department of Internal Medicine, Erasmus University Medical Center,
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| [Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia]
| 5th June, 2008
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Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
The congenital disorder of glycosylation type Ia (CDG-Ia) presents a broad...
Direct Link | 22nd April, 2008
| Metabolic unit, Department of Paediatrics, Hospital Necker-Enfants
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Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.
BACKGROUND: Hypoglycemia in infants and children can lead to seizures,...
Direct Link | 4th April, 2008
| The Children's Hospital of Philadelphia, Division of Endocrinology,
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Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Cerebellar ataxia can have many genetic causes among which are the...
Direct Link | 1st March, 2008
| Dept. of Human Genetics, Radboud University, Nijmegen Medical Centre,
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| Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.
| 27th February, 2008
| Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
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Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
Congenital disorders of glycosylation are a recently recognized group of...
Direct Link | 21st December, 2007
| Department of Pathology, Howard University School of Medicine, Washington,
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Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).
Congenital disorders of glycosylation (CDG) are a group of metabolic...
Direct Link | 19th October, 2007
| National Institutes of Health, NHGRI, Bethesda, Maryland 20892, USA.
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CDG-Id in two siblings with partially different phenotypes.
We present two sibs with congenital disorder of glycosylation (CDG) type...
Direct Link | 29th September, 2007
| Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute for
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Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
We report 3 siblings (1 male and 2 female) recently diagnosed with...
Direct Link | 1st September, 2007
| Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane,
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The liver in congenital disorders of glycosylation: ultrastructural features.
A new group of genetic diseases characterized by defective glycoprotein...
Direct Link | 28th August, 2007
| Pediatric Research and Electron Microscopy Unit, Rappaport Faculty of
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Development and multicenter evaluation of the N latex CDT direct immunonephelometric assay for serum carbohydrate-deficient transferrin.
BACKGROUND: Carbohydrate-deficient transferrin (CDT) is a promising...
Direct Link | 30th June, 2007
| Department of Clinical Chemistry, Ghent University Hospital, Ghent,
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