Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome (Q72995595)

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31 October 2019

title

Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome (English)

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31 October 2019

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4

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31 October 2019

author name string

S Krähenbühl

1

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31 October 2019

S Kleinle

2

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31 October 2019

S Henz

3

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31 October 2019

S Liechti

5

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31 October 2019

A Zimmermann

6

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31 October 2019

U Wiesmann

7

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31 October 2019

publication date

1 September 1999

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31 October 2019

published in

Journal of Hepatology

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31 October 2019

volume

31

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31 October 2019

issue

3

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31 October 2019

page(s)

550-555

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Maternal inheritance and the evaluation of oxidative phosphorylation diseases

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Liver failure associated with mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

A novel mtDNA deletion in an infant with Pearson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

A case of Pearson syndrome associated with multiple renal cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Determination of the activities of the enzyme complexes of the electron transport chain in human fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Iron and pediatric liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Congenital Atransferrinemia A Case Report and Review of the Literature

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

The significance of haemochromatosis gene mutations in the general population: implications for screening

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Protein import into mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Inhibition of mitochondrial beta-oxidation as a mechanism of hepatotoxicity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Fulminant liver failure in association with the emetic toxin of Bacillus cereus

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Molecular regulation of hepatic fibrogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

New concepts in biliary cirrhosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

Stereological and functional analysis of liver mitochondria from rats with secondary biliary cirrhosis: impaired mitochondrial metabolism and increased mitochondrial content per hepatocyte

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980050-6

7 January 2021

10.1016/S0168-8278(99)80050-6

Identifiers

DOI

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31 October 2019

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