lysosomal storage diseases/braken

De link wordt op het klembord opgeslagen

LidwoordKlinische proevenOctrooien

Kies het sorteertype

10 resultaten

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

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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].

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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

Word lid van onze
facebookpagina

Herbal & Natural Medicine

De meest complete database met geneeskrachtige kruiden, ondersteund door de wetenschap

Werkt in 55 talen
Kruidengeneesmiddelen gesteund door de wetenschap
Kruidenherkenning door beeld
Interactieve GPS-kaart - tag kruiden op locatie (binnenkort beschikbaar)
Lees wetenschappelijke publicaties met betrekking tot uw zoekopdracht
Zoek medicinale kruiden op hun effecten
Organiseer uw interesses en blijf op de hoogte van nieuwsonderzoek, klinische onderzoeken en patenten

Typ een symptoom of een ziekte en lees over kruiden die kunnen helpen, typ een kruid en zie ziekten en symptomen waartegen het wordt gebruikt.
* Alle informatie is gebaseerd op gepubliceerd wetenschappelijk onderzoek