retinitis pigmentosa/triglyceride

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Clinical and serum lipid findings in a large family with autosomal dominant retinitis pigmentosa.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Retinitis pigmentosa, of unknown cause, has recently been associated with decreased amounts of the polyunsaturated fatty acid, docosahexaenoic acid, in the plasma of affected as compared with unaffected relatives. It has been suggested that this finding may serve as a marker for the disease and

Retina expresses microsomal triglyceride transfer protein: implications for age-related maculopathy.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

The principal extracellular lesions of age-related maculopathy (ARM), the leading cause of vision loss in the elderly, involve Bruch's membrane (BrM), a thin vascular intima between the retinal pigment epithelium (RPE) and its blood supply. With age, 80-100 nm solid particles containing esterified

Plasma lipid abnormalities in retinitis pigmentosa and related conditions.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Plasma samples obtained from 69 fasting retinitis pigmentosa (RP) patients and 110 controls were assayed for cholesterol, triglycerides, lipoproteins, and fatty acids. It was found that many RP patients were hyperlipidaemic compared to their spouses and siblings, as well as compared to unrelated

Abnormal plasma lipids of patients with Retinitis pigmentosa.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Retinitis pigmentosa (RP) is a hereditary retinal degeneration of unknown etiology, resulting in progressive night blindness, loss of peripheral vision, abnormal retinal pigmentation and reduced electroretinographic response. Docosahexaenoic acid (22:6 omega 3) is found in high concentration in the

Biological safety assessment of docosahexaenoic acid supplementation in a randomized clinical trial for X-linked retinitis pigmentosa.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

BACKGROUND In a 4-year placebo-controlled trial to elevate blood docosahexaenoic acid levels in patients with X-linked retinitis pigmentosa (XLRP), the goal was to assess the potential benefit of docosahexaenoic acid supplementation in altering disease progression. However, docosahexaenoic acid

Abetalipoproteinemia: two case reports and literature review.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy,

[An adult case of probable Bassen-Kornzweig syndrome, presenting resting tremor].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

We report a 53-year-old woman with probable Bassen-Kornzweig syndrome. Her parents were a consanguineous marriage. At two years of age, she developed night blindness. During her childhood she had severe diarrhea that disappeared in adulthood. At 26 years of age, she was diagnosed as having retinitis

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Current dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:NAD+ oxido-reductase, EC 1.1.1.211) deficiency (LCHADD) is based on avoiding fasting, and minimizing energy production from long-chain fatty acids. We report the effects of various

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Deficiency of the mitochondrial trifunctional protein (TFP) and long-chain 3-Hydroxy Acyl-CoA dehydrogenase (LCHAD) impairs long-chain fatty acid oxidation and presents with hypoglycemia, cardiac, liver, eye, and muscle involvement. Without treatment, both conditions can be life-threatening. These

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual

[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

BACKGROUND Bilateral stromal corneal opacifications are a differential diagnostical challenge to identify associated systemic diseases. METHODS A 47-year old civil engineer (height 167 cm) with bilateral stromal corneal clouding presented with visual loss for the last 27 years: VA 20/100 OD and

[Abetalipoproteinemia. Apropos of 2 cases].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

The cases of two sisters with abetalipoproteinemia are reported. Both presented the complete clinical and biological features of the disease: ataxia, retinitis pigmentosa, lack of apolipoprotein B, chylomicrons, LDL and VLDL, reduced titers of serum cholesterol and triglycerides, acanthocytosis,

Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder that is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. This disorder results from mutations in the MTP gene encoding the microsomal triglyceride transfer protein. We report

An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride transfer protein gene, resulting in the absence of

[The oral vitamin E tolerance test--an attempt at standardization].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Chronic vitamin E deficiency causes various neurological symptoms such as cerebellar ataxia, hypoesthesia, areflexia, pigmentary retinopathy, nystagmus and muscle weakness. This is commonly caused by malabsorption of vitamin E, which is either a result of malabsorption of fat or occurs as an

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הצטרפו לדף הפייסבוק שלנו

Herbal & Natural Medicine

המאגר השלם ביותר של צמחי מרפא המגובה על ידי המדע

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