Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.

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Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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Liver and the defects of chole ...... ders many diagnostic pitfalls.

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Liver and the defects of chole ...... ders many diagnostic pitfalls.

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Liver and the defects of chole ...... ders many diagnostic pitfalls.

@en

Liver and the defects of chole ...... ders many diagnostic pitfalls.

@nl

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Liver and the defects of chole ...... ders many diagnostic pitfalls.

@en

Liver and the defects of chole ...... ders many diagnostic pitfalls.

@nl

P1476

Liver and the defects of chole ...... ders many diagnostic pitfalls.

@en

P2093

Antonio Dello Russo

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Gaetano Corso

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Monica Gelzo

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P2860

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

Cholesterol metabolism in cholestatic liver disease and liver transplantation: From molecular mechanisms to clinical implications

Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management

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5257-5265

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scholarly article

editorial

P356

10.3748/WJG.V23.I29.5257

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P407

English

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P478

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P577

2017-08-01T00:00:00Z

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28839426

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P932

5550775

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