Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2431
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn ; volume:20 ; number:1 ; day:13 ; month:10 ; year:2020 ; pages:1-5 ; date:12.2020
BMC pediatrics ; 20, Heft 1 (13.10.2020), 1-5, 12.2020
- Creator
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Lin, Yiming
Lin, Weihua
Chen, Yanru
Lin, Chunmei
Zheng, Zhenzhu
Zhuang, Jianlong
Fu, Qingliu
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s12887-020-02372-7
- URN
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urn:nbn:de:101:1-2020112819110889098899
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:26 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Lin, Yiming
- Lin, Weihua
- Chen, Yanru
- Lin, Chunmei
- Zheng, Zhenzhu
- Zhuang, Jianlong
- Fu, Qingliu
- SpringerLink (Online service)
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Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report
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Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
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Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13mutations among thai infants
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
Clinical aspects of human carnitine deficiency
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report
A newborn with seizures born to a mother diagnosed with primary carnitine deficiency
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Intrahepatic cholestasis of pregnancy
Progressive familial intrahepatic cholestasis
Intrahepatic Cholestasis of Pregnancy
Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13mutations among thai infants
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
Clinical aspects of human carnitine deficiency
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report
A newborn with seizures born to a mother diagnosed with primary carnitine deficiency
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Intrahepatic cholestasis of pregnancy
Progressive familial intrahepatic cholestasis