Source: International Journal of Molecular Sciences, 21, 20International Journal of Molecular Sciences; Volume 21; Issue 20; Pages: 7635International Journal of Molecular Sciences, 21

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Apolipoprotein C‐III O ‐glycoform profiling of 500 serum samples by matrix‐assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation

Authors : Yoshinao Wada; Nobuhiko Okamoto

Subjects: Adult; Glycosylation; Adolescent

Source: Journal of Mass Spectrometry. 56

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Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Authors : C. G. Asteggiano; María Fernanda Peralta; Nydia Beatriz Azar

Subjects: Male; 0301 basic medicine; Pathology

Source: Pediatric Research. 84:837-841

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Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

Authors : Megumi Tsuji; Nobuhiko Okamoto; Tomohide Goto

Subjects: Male; congenital, hereditary, and neonatal diseases and abnormalities; medicine.medical_specialty

Source: Braindevelopment. 43(3)

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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

Authors : Andrea Campo; Rosa Navarrete; Mónica Ruiz-Pons

Subjects: 0301 basic medicine; Adult; Male

Source: Clinical Genetics, 95, 5, pp. 615-626CLINICAL GENETICSr-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de DéuFundació Sant Joan de Déu

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

Authors : Carlo Dionisi-Vici; Francesca DARRA; Lorenzo Ferri

Subjects: Male; 0301 basic medicine; congenital, hereditary, and neonatal diseases and abnormalities

Source: Developmental Medicine & Child Neurology, 58, 10, pp. 1085-91Developmental Medicine & Child Neurology, 58, 1085-91

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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Authors : Justyna Paprocka; Eva Morava; Lambert P. van den Heuvel ...

Subjects: Male; Candidate gene; Glycosylation

Source: Human Molecular Genetics, 21, 19, pp. 4151-61Human Molecular Genetics, 21, 4151-61Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

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Testing for Congenital Disorders of Glycosylation by HPLC Measurement of Serum Transferrin Glycoforms

Authors : Anders Helander; Jonas Bergström; Hudson H. Freeze

Subjects: Adult; Male; Glycan

Source: Clinical Chemistry. 50:954-958

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نتائج البحث

فلترة النتائج

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test

Dissecting total plasma and protein-specific glycosylation profiles in congenital disorders of glycosylation

Apolipoprotein C‐III O ‐glycoform profiling of 500 serum samples by matrix‐assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

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

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Testing for Congenital Disorders of Glycosylation by HPLC Measurement of Serum Transferrin Glycoforms

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