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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Increased detection of primary carnitine deficiency through second-tier newborn genetic screening ; volume:16 ; number:1 ; day:23 ; month:3 ; year:2021 ; pages:1-7 ; date:12.2021
Orphanet journal of rare diseases ; 16, Heft 1 (23.3.2021), 1-7, 12.2021

Creator: Lin, Yiming
Zhang, Weifeng
Huang, Chenggang
Lin, Chunmei
Lin, Weihua
Peng, Weilin
Fu, Qingliu
Chen, Dongmei

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-021-01785-6

URN: urn:nbn:de:101:1-2021050809053624597182

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

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Associated

Lin, Yiming
Zhang, Weifeng
Huang, Chenggang
Lin, Chunmei
Lin, Weihua
Peng, Weilin
Fu, Qingliu
Chen, Dongmei
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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BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

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

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

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A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

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

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Other Objects (12)

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

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of 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

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

Clinical aspects of human carnitine deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

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

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of 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

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

Clinical aspects of human carnitine deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

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

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of 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

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

Clinical aspects of human carnitine deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

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BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

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