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Jun 11, 2016
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The class...
Jun 11, 2016
Gokay S, Kendirci M, Soylu Ustkoyuncu P, Kardas F, Kacar Bayram A, Per H, Poyrazoğlu HG
BACKGROUND: Tyrosinemia type II is a rare autosomal recessive disorder caused by the deficiency of tyrosine aminotransferase (TAT). It may occur with symptoms of ocular and cutaneous whether with or without mental reta...
Jun 10, 2016
Oni T, Unwin N
In today's globalized world, rapid urbanization, mechanization of the rural economy, and the activities of trans-national food, drink and tobacco corporations are associated with behavioral changes that increase the ri...
Jun 10, 2016
Dressler A, Trimmel-Schwahofer P, Reithofer E, Gröppel G, Mühlebner A, Samueli S, Grabner V, Abraham K, Benninger F, Feucht M
OBJECTIVE: To evaluate the efficacy and safety of the ketogenic diet (KD) in infants (< 1.5 years of age) compared with older children. METHODS: Patients with complete follow-up data of ≥ 3 months after initiat...
Jun 10, 2016
Bhandary S, Aguan K
The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the physiologically irreversible...
Jun 9, 2016
Alrifai MT, Alfadhel M
OBJECTIVE: Asparagine synthetase deficiency is an autosomal recessive neurometabolic disorder characterized clinically by severe congenital microcephaly, global developmental delay, intractable epilepsy, and motor impa...
Jun 9, 2016
Amalou S, Gras D, Ilea A, Greneche MO, Francois L, Bellavoine V, Delanoe C, Auvin S
AIM: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) results from impaired glucose transport into the brain, and is treated with a ketogenic diet. A few reports have suggested effectiveness of treatment using...
Jun 9, 2016
Mikulka I
Disease-related malnutrition is usually caused by the joint action of the underlying disease itself and dietary deficiency. The consequences of malnutrition, if left untreated, are serious, causing a marked decline in ...
Jun 9, 2016
Aydın L, Erdem SR, Yazıcı C
Some studies have shown a relationship between febrile seizures and zinc levels. The lowest dose zinc supplementation in pentylenetetrazole seizure model has a protective effect. But, zinc pretreatment has no effect in...
Jun 6, 2016
Bulaj G, Kuhn A, Judkins ZS, Ahern MM, Bowen RS, Chen Y
Merging pharmaceutical and digital (mobile health, mHealth) ingredients to create new therapies for chronic diseases offers unique opportunities for natural products such as omega-3 polyunsaturated fatty acids (n-3 PUF...

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