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Symptoms, signs and abnormal clinical and laboratory findings
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- Bone Diseases, Developmental
- Brain Diseases
- Cardiovascular Abnormalities
- Cataract
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Craniofacial Abnormalities
- Developmental Disabilities
- Dwarfism (Short stature disorder)
- Eye Abnormalities
- Eye Diseases
- Feeding and Eating Disorders of Childhood
- Female Urogenital Diseases
- Glaucoma
- Growth Disorders
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Heart Defects, Congenital
- Heredodegenerative Disorders, Nervous System
- Hydrocephalus
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Lens Diseases
- Limb Deformities, Congenital
- Macrocephaly
- Male Urogenital Diseases
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Nervous System Diseases
- Nervous System Malformations
- Neurobehavioral Manifestations
- Neurodegenerative Diseases
- Ocular Hypertension
- Pathologic Processes
- Stomatognathic System Abnormalities
- Vision Disorders
- Vision, Low
- Brachydactyly
- Cleft Lip
- Cleft Palate
- Corneal Dystrophies, Hereditary
- Eye Diseases, Hereditary
- Fetal Growth Retardation
- Hand Deformities, Congenital
- Jaw Abnormalities
- Lower Extremity Deformities, Congenital
- Micrognathism
- Mouth Abnormalities
- Upper Extremity Deformities, Congenital
- Urogenital Abnormalities
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References
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- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
- Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
- Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
- Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
- Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 2 Defects in protein O-glycosylation.
- Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
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