glycogen storage disease type ii/phosphatase

Linkki tallennetaan leikepöydälle

Artikkelit Kliiniset tutkimuksetPatentit

Valitse lajittelutyyppi

Sivu 1 alkaen 44 tuloksia

Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

BACKGROUND The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles. A mouse model of this disease was obtained by targeted disruption of the murine acid alpha-glucosidase gene (Gaa) in

Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

We established muscle-tissue cultures from biopsy of a patient with adult-onset acid maltase deficiency. Morphologically and biochemically, the newly grown fibers of the cultured muscle showed the same abnormalities as those of the biopsied muscle. Light microscopy showed multiple vacuoles filled

Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of acid-α-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. We hypothesized that hydrostatic isolated limb perfusion (ILP) administration of an

Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

Acid maltase deficiency (AMD) causes a lysosomal glycogenosis inherited as an autosomal recessive trait. The infantile type of AMD (Pompe disease) leads to early death due to severe dysfunction of cardiac and respiratory muscles and no effective therapy is available. Replication-defective adenovirus

Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

In the search of a better enzyme therapy in Pompe disease, the conjugation of mannose 6-phosphonates to the recombinant enzyme appeared as an enhancer of its efficacy. Here, we demonstrated that the increased efficacy of the conjugated enzyme is partly due to a higher intracellular maturation

Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

As of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD

[Pulmonary hypertension due to glycogen storage disease type II (Pompe's disease): a case report].

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

A rare case of pulmonary hypertension due to glycogen storage disease type II (Pompe's disease) was reported. An 18-year-old girl was admitted to Kawasaki Medical School Hospital because of cyanosis, dyspnea on exertion and amenorrhea. She was 149 cm in height and 29 kg in body weight. Clinical

[Adult form of acid maltase deficiency presenting with pattern of muscle weakness resembling facioscapulohumeral dystrophy].

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

We report a 61-year-old female patient with adult form of acid maltase deficiency showing many clinical similarities to facioscapulohumeral muscular dystrophy (FSHD). She developed difficulty in raising her right arm in her thirties followed by leg weakness. She had the typical features of FSHD,

Japanese quail and human acid maltase deficiency: a comparative study.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

A morphological study was carried out on the skeletal muscle of a mutant Japanese quail with acid maltase deficiency (AMD). The affected quails began to experience difficulty in lifting their wings about 6 weeks after hatching. Four weeks after hatching, before symptoms appeared, alpha-1,

Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease).

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

The pathology of canine glycogen storage disease type II (acid alpha-glucosidase deficiency, GSD II) was studied in three genetically related Lapland dogs and compared to the pathology of human GSD II (McKusick 23230). Canine GSD II closely parallels the infantile form of the human disease, except

Adult-onset acid maltase deficiency in siblings.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

Two siblings who developed adult form acid maltase deficiency (AMD) are reported. The elder sister, a 30-year-old Japanese woman whose parents are cousins was admitted because of respiratory disturbance which she noticed two years previously. The muscle histology demonstrated numerous acid

Late-Onset Pompe Disease with Nemaline Bodies.

Vain rekisteröityneet käyttäjät voivat kääntää artikkeleita

Kirjaudu sisään Rekisteröidy

Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms.

Edellinen
1
2
3
Seuraava

Liity facebook-sivullemme

Herbal & Natural Medicine

Täydellisin lääketieteellinen tietokanta tieteen tukemana

Toimii 55 kielellä
Yrttilääkkeet tieteen tukemana
Yrttien tunnistaminen kuvan perusteella
Interaktiivinen GPS-kartta - merkitse yrtit sijaintiin (tulossa pian)
Lue hakuusi liittyviä tieteellisiä julkaisuja
Hae lääkekasveja niiden vaikutusten perusteella
Järjestä kiinnostuksesi ja pysy ajan tasalla uutisista, kliinisistä tutkimuksista ja patenteista

Kirjoita oire tai sairaus ja lue yrtteistä, jotka saattavat auttaa, kirjoita yrtti ja näe taudit ja oireet, joita vastaan sitä käytetään.
* Kaikki tiedot perustuvat julkaistuun tieteelliseen tutkimukseen