Systemic primary carnitine deficiency with hypoglycemic encephalopathy

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Systemic primary carnitine deficiency with hypoglycemic encephalopathy

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http://www.wikidata.org/entity/Q41952519

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

@en

type

Item

label

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

@en

prefLabel

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

@en

P1476

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

@en

P2093

Eun Joo Lee

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

Hyung Doo Park

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

Jae Sung Jun

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

P2860

Carnitine-associated encephalopathy caused by long-term treatment with an antibiotic containing pivalic acid

Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children

Carnitine deficiency disorders in children.

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

P304

226-229

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

P31

scholarly article

case report

P356

10.6065/APEM.2016.21.4.226

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

P433

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

P478

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

P50

Hae Sook Kim

P577

2016-12-31T00:00:00Z

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

P698

28164076

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

P921

Systemic primary carnitine deficiency

P932

5290178

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