Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.

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P2860

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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P1476

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

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P2093

A Balreira

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D Serra

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F Marques

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M Barbosa

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M Reis-Lima

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P2860

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Malformation syndromes caused by disorders of cholesterol synthesis.

Inborn errors of sterol biosynthesis.

Mutational spectrum of NSDHL in CHILD syndrome

Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Transfer of maternal cholesterol to embryo and fetus in pregnant mice.

Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

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184-188

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scholarly article

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10.1111/CGE.12139

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2013-04-05T00:00:00Z

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23509885

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

about

P2860

P2860

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

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P1433

P1476

P2093

P2860

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