Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

@nl

P1476

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

@en

P2093

Shouyan Zheng

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P2860

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.

Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores.

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.

Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

P2888

s12881-018-0683-9

P304

172

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P31

scholarly article

case report

P356

10.1186/S12881-018-0683-9

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Wei Liao

P577

2018-09-17T00:00:00Z

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P6179

1107066669

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P698

30223778

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P932

6142338

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