Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Urheber
-
Wang, Li-Yun
- Beteiligte Personen und Organisationen
-
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
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:49 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Wang, Li-Yun
- Chen, Nien-I
- Chen, Pin-Wen
- Chiang, Shu-Chuan
- Hwu, Wuh-Liang
- Lee, Ni-Chung
- Chien, Yin-Hsiu
- SpringerLink (Online service)
Ähnliche Objekte (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
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
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