abetalipoproteinemia/homa

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Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

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Ingia / Ingia

Abetalipoproteinaemia is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride. It results from mutations in the gene encoding microsomal triglyceride transfer protein. Nine-month-old girl was admitted to our hospital because of fever,

Homozygous hypobetalipoproteinemia with spared chylomicron formation.

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Ingia / Ingia

Thirteen members of a family carrying a gene for pedigree of hypobetalipoproteinemia were analyzed for lipoprotein compositions, apolipoprotein (apo) B levels, and apo B isoforms. Judging from low density lipoprotein (LDL)-cholesterol (Chol) and apo B levels, a 75-year-old proband, a father who died

Colchicine toxicity precipitated by interaction with sunitinib.

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Ingia / Ingia

OBJECTIVE Colchicine is an anti-inflammatory agent used primarily in treatment of gout and familial Mediterranean fever. Toxicity is uncommon, and depends on dose, hepatic or renal impairment, co-administration with P-glycoprotein or CYP3A4 inhibitors and route of administration. In patients taking

The diagnosis and outcomes of persistent diarrhea in infants aged 0-24 months--a Turkish cohort study.

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Ingia / Ingia

OBJECTIVE Infantile persistent diarrhea series are not well documented in the literature. Evaluating the literature, the aim of this study was to document persistent diarrhea cases followed in our center and to constitute a practical diagnostic algorithm for the pediatrician by means of surveying

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.

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Ingia / Ingia

A combination of unexplained peripheral neuropathy, hypoparathyroidism, and the inability to cope with metabolic stress could point to a rare inborn error of metabolism, such as mitochondrial trifunctional protein (MTP) deficiency.Here, we describe a 20-year-old woman who was known since childhood

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Herbal & Natural Medicine

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Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu

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