(Q34170461)

31 July 2017

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title

Liver injury in alpha 1-antitrypsin deficiency (English)

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alpha-1-antitrypsin deficiency

31 July 2017

main subject

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Perlmutter DH

1

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31 July 2017

publication date

1 May 2000

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31 July 2017

published in

Clinics in liver disease

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31 July 2017

volume

4

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31 July 2017

issue

2

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31 July 2017

page(s)

387-408, vi

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Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome

31 July 2017

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Histopathology of α1-antitrypsin liver disease in a transgenic mouse model

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Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

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Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency

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Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis

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Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins

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7 January 2021

Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

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7 January 2021

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa

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7 January 2021

Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study

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7 January 2021

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Hepatocyte inclusions of alpha 1-antichymotrypsin in a patient with partial deficiency of alpha 1-antichymotrypsin and chronic liver disease

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Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase

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7 January 2021

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7 January 2021

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7 January 2021

Synthesis of stress proteins is increased in individuals with homozygous PiZZ alpha 1-antitrypsin deficiency and liver disease

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

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7 January 2021

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

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7 January 2021

Lung transplantation for alpha 1-antitrypsin deficiency emphysema

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7 January 2021

Alpha-1-Antitrypsin MZ Phenotype and Cryptogenic Chronic Liver Disease in Adults

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7 January 2021

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

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7 January 2021

Degradation of CFTR by the ubiquitin-proteasome pathway

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

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A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

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7 January 2021

Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency

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7 January 2021

The Z type variation of human alpha 1-antitrypsin causes a protein folding defect

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7 January 2021

Novel pharmacologic therapies for cystic fibrosis

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7 January 2021

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Identifiers

DOI

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31 July 2017

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