Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

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Red blood cell transfusions increase fecal calprotectin levels in premature infants.Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.

P2860

Q40729190-2D2BA3BC-9CF5-4327-9442-B2C5A56BC4ED Q53793476-9DA56D4A-E856-434E-A22E-D6C2B4A98FC7

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Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

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http://www.wikidata.org/entity/Q43245541

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

@wuu

2012年学术文章

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2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

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2012年学术文章

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2012年學術文章

@yue

2012年學術文章

@zh-hant

name

Necrotizing enterocolitis and ...... functional protein deficiency.

@en

Necrotizing enterocolitis and ...... functional protein deficiency.

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type

Item

label

Necrotizing enterocolitis and ...... functional protein deficiency.

@en

Necrotizing enterocolitis and ...... functional protein deficiency.

@nl

prefLabel

Necrotizing enterocolitis and ...... functional protein deficiency.

@en

Necrotizing enterocolitis and ...... functional protein deficiency.

@nl

P1476

Necrotizing enterocolitis and ...... functional protein deficiency.

@en

P2093

Berthil H C M T Prinsen

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Carolien C A Boelen

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

Eugène F Diekman

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

Frits A Wijburg

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

Gepke Visser

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

Hans R Waterham

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

Lodewijk Ijlst

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

Marinus Duran

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

Tom J de Koning

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

P2860

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits

P304

1-6

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P31

scholarly article

case report

P356

10.1007/8904_2012_128

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P478

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P50

Ronald J A Wanders

P577

2012-03-31T00:00:00Z

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P698

23430487

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P921

perinatal necrotizing enterocolitis

Mitochondrial trifunctional protein deficiency

infant respiratory distress syndrome

P932

3575038

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Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

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P2860

P2860

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

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P1476

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P2860

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