olivopontocerebellar atrophies/carbohydrate

Nuoroda įrašoma į mainų sritį

StraipsniaiKlinikiniai tyrimaiPatentai

Pasirinkite rūšiavimo tipą

10 rezultatus

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age

Olivopontocerebellar atrophy in carbohydrate-deficient glycoprotein syndrome.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

An 8-month-old male infant who presented in the neonatal period with failure to thrive, bilateral pleural and pericardial effusions, and hepatic insufficiency characterized by elevated liver functions tests and hypoalbuminemia was found at autopsy to have an unusual combination of

[The carbohydrate deficient glycoprotein syndrome].

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

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,

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Carbohydrate-deficient glycoconjugate (CDG) syndrome type I due to phosphomannomutase deficiency (CDGIA) is the most common among a group of metabolic disorders characterized by a defective glycosylation of glycoconjugates. Clinically it is a multisystem disease with an important involvement of the

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2),

Familial infantile olivopontocerebellar atrophy.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Infantile olivopontocerebellar atrophies are rare progressive, fatal, neurologic conditions characterized pathologically by loss of neurons and gliosis in the cerebellum, pons, and inferior olivary nuclei in early life. The clinical and pathologic features of 2 brothers who presented in early

Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient

Carbohydrate-deficient glycoprotein syndrome with previously unreported features.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation.

Prisijunkite prie mūsų
„Facebook“ puslapio

Herbal & Natural Medicine

Išsamiausia vaistinių žolelių duomenų bazė, paremta mokslu

Dirba 55 kalbomis
Žolelių gydymas, paremtas mokslu
Vaistažolių atpažinimas pagal vaizdą
Interaktyvus GPS žemėlapis - pažymėkite vaistažoles vietoje (netrukus)
Skaitykite mokslines publikacijas, susijusias su jūsų paieška
Ieškokite vaistinių žolelių pagal jų poveikį
Susitvarkykite savo interesus ir sekite naujienas, klinikinius tyrimus ir patentus

Įveskite simptomą ar ligą ir perskaitykite apie žoleles, kurios gali padėti, įveskite žolę ir pamatykite ligas bei simptomus, nuo kurių ji naudojama.
* Visa informacija pagrįsta paskelbtais moksliniais tyrimais