strabismus/carbohydrate

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[Carbohydrate-deficient blood glycoprotein syndrome].

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Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

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A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described.

[Carbohydrate-deficient glycoprotein syndrome].

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Carbohydrate-deficient glycoprotein syndrome is characterized by mental retardation, ataxia, hepatopathy during infancy, cerebellar hypoplasia, peripheral neuropathy, internal strabismus, growth retardation and stroke-like episodes. Since the description of female siblings with unique clinical and

[Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results].

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OBJECTIVE To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) over a period of 5 years. METHODS A 12-month-old male underwent clinical ophthalmic and electrophysiological examination at the

[The carbohydrate deficient glycoprotein syndrome].

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The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth,

Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

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OBJECTIVE To evaluate the evolution of ocular and electroretinographic findings in identical twin sisters with the carbohydrate deficient glycoprotein (CDG) syndrome over a period of 14 years. METHODS Both girls underwent a clinical ophthalmic examination with funduscopy and an electrophysiological

Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: case report and review of the literature.

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The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with

Re-evaluation of the dysequilibrium syndrome.

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OBJECTIVE To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). METHODS Six patients from five families underwent neurological examination and magnetic

[A not-previously described hereditary neurological disease with a deficiency of sialic acid, galactose and N-acetylglucosamine of plasma glycoproteins].

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We report on five girls (including monozygotic twins) with a newly recognized disease comprising severe neurologic disturbances, variable hepatomegaly, abnormal subcutaneous fat distribution and skeletal anomalies. The neurologic picture was characterized by moderate to severe psychomotor

A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy.

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We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped dystonic hand movements and ophthalmological abnormalities such as optic atrophy, nystagmus and

[CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat].

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Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS-1) is an autosomal recessive hereditary metabolic disorder, the gene locus of which is chromosome 16p13. The disorder is characterised by genetic heterogeneity, and by decrease in the gene product, phosphomannomutase 2, though the

The Drosophila selectin furrowed mediates intercellular planar cell polarity interactions via frizzled stabilization.

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Establishment of planar cell polarity (PCP) in a tissue requires coordination of directional signals from cell to cell. It is thought that this is mediated by the core PCP factors, which include cell-adhesion molecules. Here, we demonstrate that furrowed, the Drosophila selectin, is required for PCP

Parents' awareness and perception of children's eye diseases in Nigeria.

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OBJECTIVE Most causes of childhood blindness are treatable or preventable. Knowledge of parents' awareness and perception of eye problems is important in helping to understand parents' eye care seeking behavior. This understanding becomes necessary as early detection and intervention can be

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

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BACKGROUND Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. METHODS We report the clinical, biological, and

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