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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

• Bobby G Ng, Sergey A. Shiryaev, +56 authors Hudson H. Freeze
• Human mutation
• 2016

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that… (More)

ALG8-CDG: novel patients and review of the literature

• Michaela Sailer Höck, K Wegleiter, +11 authors Daniela Karall
• Orphanet journal of rare diseases
• 2015

BACKGROUND Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less… (More)

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

• Els Schollen, Liesbeth Keldermans, +7 authors Gert Matthijs
• Molecular genetics and metabolism
• 2007

Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by mutations in the PMM2 gene and characterized by a defect in the synthesis of N-glycans. The clinical… (More)

COG5-CDG: expanding the clinical spectrum

• Daisy Rymen, Liesbeth Keldermans, +9 authors Jaak Jaeken
• Orphanet journal of rare diseases
• 2012

BACKGROUND The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of… (More)

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.

• Wendy Vleugels, Liesbeth Keldermans, +4 authors François Foulquier
• Glycobiology
• 2009

We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation. This patient presented with psychomotor retardation, axial… (More)

Antibody response in cats to the envelope proteins of feline immunodeficiency virus: identification of an immunodominant neutralization domain.

• Anthony de Ronde, Joop Stam, +7 authors Marian C. Horzinek
• Virology
• 1994

Overlapping fragments of the envelope protein of feline immunodeficiency virus (FIV) have been expressed in Escherichia coli. Screening of cat sera for antibodies to these fragments revealed that the… (More)

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

• Carmen Barba, Francesca Darra, +6 authors Renzo Guerrini
• Developmental medicine and child neurology
• 2016

AIM Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical… (More)

Correction: COG5-CDG: expanding the clinical spectrum

• Daisy Rymen, Liesbeth Keldermans, +9 authors Jaak Jaeken
• 2013

Author details Centre for Human Genetics, University of Leuven, Leuven, Belgium. Centre for Metabolic Diseases, University Hospital Gasthuisberg, Herestraat 49, BE-3000, Leuven, Belgium. University… (More)

Galactose Epimerase Deficiency: Expanding the Phenotype.

• Filipa Dias Costa, Sacha Ferdinandusse, +8 authors Paula García
• JIMD reports
• 2017

Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical… (More)

Division of Metabolic Disorders, Children’s Hospital of Orange County, Orange, California

• Bobby G Ng, Sergey A. Shiryaev, +53 authors Sanford Burnham
• 2016

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that… (More)

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