This glycan also appeared to be present together with the corresponding fucosylated one (NeuAc1Hex5HexNAc3dHex1; m/z 2,360) which was not present in the control. [journals.plos.org]

[…] of glycosylation type Ii Mannosyltransferase 2 deficiency Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: E77.8 OMIM: 607906 UMLS: C1842836 MeSH: - GARD: 9836 MedDRA: - The documents contained in this web site are presented [orpha.net]

Vision was determined to be affected and irregular nystagmus was often present. At 4 months of age a seizure disorder presented with infantile spasms. [preventiongenetics.com]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.ro]

Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. Results: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. [n.neurology.org]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

A polysaccharide immunomodulator with therapeutic implications, carbohydrate vaccines, new findings emphasizing the influence of carbohydrate decoration on the regulation of inflammatory response and new therapeutic approaches in the treatment of acute [books.google.ro]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

No curative or effective treatment is available for neurological CDG. Since at least 1% of the genome is involved in glycosylation, it is likely that the large majority of CDG is yet to be discovered. [books.google.it]

Prognosis - CDG syndrome type 2 Not supplied. Treatment - CDG syndrome type 2 Not supplied. Resources - CDG syndrome type 2 Not supplied. [checkorphan.org]

Prognosis Infections in LAD-II are rarely life-threatening and thus patients may live to adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Etiology LAD-II is a carbohydrate-deficient glycoprotein syndrome (CDG syndrome; see this term) and is therefore also referred to as CDG IIc. [orpha.net]

The diagnosis of CDGs should be suspected in cases with neurological signs and symptoms of unknown etiology, or in any patient with multisystemic disease even in the absence of neurological features. [clinicaltrials.gov]

The differential diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including galactosemia, hereditary fructose intolerance in acute crisis, and liver disease of unexplained etiology. [mayomedicallaboratories.com]

Johnson, Lambro A. et al. (2013): BMI but not stage or etiology of nonalcoholic liver disease affects the diagnostic utility of carbohydrate-deficient transferrin. Alcoholism, clinical and experimental research 37 (10), S. 1771–1778. [med4you.at]

In addition, several CDGs of so far unknown etiology (CDG-x) have been recognized. [biochemia-medica.com]

[…] data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: no data available [csbg.cnb.csic.es]

Summary Epidemiology LAD-II is extremely rare: less than 10 cases have been reported so far. Clinical description The first signs usually occur in infancy or early childhood. [orpha.net]

He is working in the field of CDG since 1999 and is interested in pathophysiological aspects of glycosylation deficiencies. [for2509.de]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, are a group of over [mayomedicallaboratories.com]

However, more work is needed to pinpoint the exact function of MAN1B1 in glycoprotein quality control, and to understand the pathophysiology of its deficiency. [journals.plos.org]

Others, such as muscle-eye-brain disease and Walker–Warburg syndrome, were well known, but elucidation of their relation to glycosylation has provided new insights into their pathophysiology and opens possibilities for therapy. [clinicalgate.com]

RESULTS Subcellular localization of the wt and mutated transiently expressed TMEM165 proteins Determination of the subcellular localization of wt and mutant TMEM165 was undertaken to further understand the pathophysiology of the CDG linked to this protein [doi.org]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.ro]

Prevention - CDG syndrome type 2 Not supplied. Diagnosis - CDG syndrome type 2 Not supplied. Prognosis - CDG syndrome type 2 Not supplied. Treatment - CDG syndrome type 2 Not supplied. Resources - CDG syndrome type 2 Not supplied. [checkorphan.org]

Health concerns can be decreased through preventative medicine with appropriate nutrition and scheduled immunizations. Doctors and scientists are working to find and create more specific treatments for CDG. CDG CARE supports these research efforts. [cdgcare.com]