Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

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A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report

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Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

@zh

2017年学术文章

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2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

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Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

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type

Item

label

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

@en

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

@nl

prefLabel

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

@en

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

@nl

P1476

Acute hepatic porphyrias: Recommendations for evaluation and long-term management

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Bruce Wang

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D Montgomery Bissell

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Herbert L Bonkovsky

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John D Phillips

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Joseph R Bloomer

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Karl E Anderson

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Porphyrias Consortium of the Rare Diseases Clinical Research Network

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Robert J Desnick

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Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

An update of clinical management of acute intermittent porphyria

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

Recommendations for the diagnosis and treatment of the acute porphyrias.

New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation.

The incidence of inherited porphyrias in Europe.

Porphyric neuropathy.

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.

Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study.

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1314-1322

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scholarly article

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10.1002/HEP.29313

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English

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P478

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Manisha Balwani

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2017-09-04T00:00:00Z

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28605040

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P932

5605422

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Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

about

P2860

P2860

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932