Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests ; volume:14 ; number:1 ; day:10 ; month:2 ; year:2013 ; pages:1-6 ; date:12.2013
BMC medical genetics ; 14, Heft 1 (10.2.2013), 1-6, 12.2013

Creator: Wang, Li-Yun

Contributor: Chen, Nien-I
Chen, Pin-Wen
Chiang, Shu-Chuan
Hwu, Wuh-Liang
Lee, Ni-Chung
Chien, Yin-Hsiu
SpringerLink (Online service)

DOI: 10.1186/1471-2350-14-24

URN: urn:nbn:de:1111-2016071516564

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:49 AM CEST

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Associated

Wang, Li-Yun
Chen, Nien-I
Chen, Pin-Wen
Chiang, Shu-Chuan
Hwu, Wuh-Liang
Lee, Ni-Chung
Chien, Yin-Hsiu
SpringerLink (Online service)

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Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

A newborn with seizures born to a mother diagnosed with primary carnitine deficiency

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Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis

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Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

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Other Objects (12)

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

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 medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Clinical aspects of human carnitine deficiency

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Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase 2 deficiency, malignant hyperthermia and anesthesia

Genes involved in carnitine synthesis and carnitine uptake are up-regulated in the liver of sows during lactation

Genes involved in carnitine synthesis and carnitine uptake are up-regulated in the liver of sows during lactation

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

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 medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Clinical aspects of human carnitine deficiency

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase 2 deficiency, malignant hyperthermia and anesthesia

Genes involved in carnitine synthesis and carnitine uptake are up-regulated in the liver of sows during lactation

Genes involved in carnitine synthesis and carnitine uptake are up-regulated in the liver of sows during lactation

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

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 medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Clinical aspects of human carnitine deficiency

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

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Genes involved in carnitine synthesis and carnitine uptake are up-regulated in the liver of sows during lactation

Genes involved in carnitine synthesis and carnitine uptake are up-regulated in the liver of sows during lactation

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