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glycogen storage disease/ацёк
Спасылка захоўваецца ў буферы абмену
Старонка 1 ад 25 вынікі
[Insulin edema in hepatic glycogenosis].
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
BACKGROUND
Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated.
METHODS
An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes,
Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated
Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Glycogen storage disease type IV presenting as hydrops fetalis.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
We describe an infant prenatally diagnosed with hydrops fetalis ultimately found to have Noonan syndrome (NS). Prior to genetic confirmation of diagnosis, lung biopsy was performed which revealed widespread pulmonary interstitial glycogenosis (PIG), abnormal alveolarization, and mild inflammation.
Type 1 glycogenosis with contracted kidneys and liver cell adenoma.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
A 22-year-old man with type 1 glycogenosis died of renal and respiratory failure. Postmortem examination revealed deposition of glycogen in liver cells, a liver cell adenoma, bilateral contracted kidneys with scent glycogen deposition, and pulmonary edema. The development of liver cell adenoma was
Nonimmune hydrops fetalis in the liveborn: series of 32 autopsies.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. This disease is extremely
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype
Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease.
Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Glycogen storage diseases (GSDs) comprise a large, heterogeneous group of disorders characterized by abnormal glycogen deposition. Multiple cases in the literature have demonstrated an association between GSD type I and pulmonary arterial hypertension (PAH). We now also report on two patients with
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid
[The fructose induced "glycogenosis". I. Ultrastructural and morphometric analysis of rat hepatocytes 7 days after fructose overload (author's transl)].
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
BACKGROUND
Infusion of fructose has been shown to stimulate the SER and to reduce the RER in rat liver cells. After feeding fructose of 7 days a glycogenosis of unknown pathogenesis occurs, which was analysed morphometrically.
METHODS
60% fructose in water, was given as drinking water to animals
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like structures in affected tissues. The disease is
Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12-week-ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia
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