Italian
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
lysosomal storage diseases/vomito
Il collegamento viene salvato negli appunti
10 risultati
[Fabry's disease: diagnosis in the pediatric age group].
Solo gli utenti registrati possono tradurre articoli
Entra registrati
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
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases characterized by progressive neuropathy and the accumulation of autofluorescent cytoplasmic granules. Clinical signs of a new canine NCL began in a 9-month-old male Dachshund with vomiting, mental dullness, and loss
[Infantile cystinosis].
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Infantile cystinosis is a metabolic lysosomal storage disease of cystine affecting most of the body cells. The first symptoms appear after 5-6 months of life: anorexia, vomiting, polyuria, polydipsia and failure to thrive, associated with the signs of tubular Fanconi syndrome including glycosuria,
Using two smartphones to look for corneal cystine crystals.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Cystinosis, a rare autosomal recessive lysosomal storage disease, can be difficult to detect. The most common form of the disease is infantile or nephropathic cystinosis. Crystals can accumulate in the eye as early as 1 year of age. Early recognition and prompt investigations prevent further
Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
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.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
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.
Infantile cystinosis: From dialysis to renal transplantation.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
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
Effects of long-term cysteamine treatment in patients with cystinosis.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. Patients with infantile nephropathic cystinosis, the most
Il database di erbe medicinali più completo supportato dalla scienza
- Funziona in 55 lingue
- Cure a base di erbe sostenute dalla scienza
- Riconoscimento delle erbe per immagine
- Mappa GPS interattiva - tagga le erbe sul luogo (disponibile a breve)
- Leggi le pubblicazioni scientifiche relative alla tua ricerca
- Cerca le erbe medicinali in base ai loro effetti
- Organizza i tuoi interessi e tieniti aggiornato sulle notizie di ricerca, sperimentazioni cliniche e brevetti
Digita un sintomo o una malattia e leggi le erbe che potrebbero aiutare, digita un'erba e osserva le malattie ei sintomi contro cui è usata.
* Tutte le informazioni si basano su ricerche scientifiche pubblicate
