lysosomal storage diseases/driska

Povezava se shrani v odložišče

Izberite vrsto razvrščanja

11 rezultatov

[Fabry's disease: diagnosis in the pediatric age group].

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

OBJECTIVE Fabry's disease is the second most frequent alteration of glycosphingolipid lysosomal storage diseases (after Gaucher's disease). Typical symptomatology starts in the first decade of life. Neuropathic pain, gastrointestinal involvement with abdominal pain, vomiting and diarrhea and

[Fabry's disease and hypoparathyroidism].

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

BACKGROUND Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs. METHODS A 19-year-old man with known hypoparathyroidism presented with

Alpha-mannosidosis: the first Turkish case.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

We describe a 10 month old boy with alpha-mannosidosis who presented with recurrent bronchopneumonia and diarrhea. Facial coarsening, deafness, hepatosplenomegaly, umbilical hernia, pectus carinatum and widespread Mongolian spots were distinguishing features. He also had mild skeletal deformities

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the first sibling presented with alternating episodes

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant

Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes.

Oxidative Stress and Cardiovascular-Renal Damage in Fabry Disease: Is There Room for a Pathophysiological Involvement?

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Fabry disease is an X-linked lysosomal storage disease caused by mutations in the GLA gene that lead to a reduction or an absence of the enzyme α-galactosidase A, resulting in the progressive and multisystemic accumulation of globotriaosylceramide. Clinical manifestation varies from mild to severe,

Clinical toleration and safety of azithromycin.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

The toleration and safety profile of the azalide antibiotic, azithromycin, has been assessed in 3,995 patients aged 2-94 (mean, 36) years, comprising 1,644 females and 2,351 males. Patients with infections of the respiratory tract or skin/skin structure received 1.5 g azithromycin over 5 days;

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Pompe disease is a lysosomal storage disease due to deficient acid α-glucosidase (GAA) activity. Infants with the classic infantile-onset subtype present with severe hypotonia and cardiomegaly, and most expire in the first year of life, whereas the severity of the muscle-based manifestations in

Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to

Mucopolysaccharidosis III in Mainland China: Natural History, Clinical and Molecular Characteristics of 34 Patients

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the

Pridružite se naši
facebook strani

Herbal & Natural Medicine

Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo

Deluje v 55 jezikih
Zeliščna zdravila, podprta z znanostjo
Prepoznavanje zelišč po sliki
Interaktivni GPS zemljevid - označite zelišča na lokaciji (kmalu)
Preberite znanstvene publikacije, povezane z vašim iskanjem
Iščite zdravilna zelišča po njihovih učinkih
Organizirajte svoje interese in bodite na tekočem z raziskavami novic, kliničnimi preskušanji in patenti

Vnesite simptom ali bolezen in preberite o zeliščih, ki bi lahko pomagala, vnesite zelišče in si oglejte bolezni in simptome, proti katerim se uporablja.
* Vse informacije temeljijo na objavljenih znanstvenih raziskavah