Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: clinical symptoms, newborn screening, enzyme activity, and genetics

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: JIMD reports. - 63, 2 (2022) , 181-190, ISSN: 2192-8312

Classification: Medizin, Gesundheit

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2022

Creator: Olsson, David
Barbaro, Michela
Haglind, Charlotte
Halldin, Maria
Lajic, Svetlana
Tucci, Sara
Zetterström, Rolf H.
Nordenström, Anna

DOI: 10.1002/jmd2.12268

URN: urn:nbn:de:bsz:25-freidok-2257951

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

Last update: 25.03.2025, 1:55 PM CET

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Associated

Olsson, David
Barbaro, Michela
Haglind, Charlotte
Halldin, Maria
Lajic, Svetlana
Tucci, Sara
Zetterström, Rolf H.
Nordenström, Anna
Universität

Time of origin

2022

Other Objects (12)

Hochschulschrift

Genetics of primary antibody deficiency

Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase

Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

Hochschulschrift

Relevanz von Long-chain Acyl-CoA Synthetase 3 und Perilipin-2/ -3 für den Lipidstoffwechsel, Charakterisierung einer neuen humanen Long-chain Acyl-CoA Synthetase 5 Variante

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Long-chain acyl-carnitines interfere with mitochondrial ATP production leading to cardiac dysfunction in zebrafish

Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency

Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Hochschulschrift

Genetics of primary antibody deficiency

Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase

Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

Hochschulschrift

Relevanz von Long-chain Acyl-CoA Synthetase 3 und Perilipin-2/ -3 für den Lipidstoffwechsel, Charakterisierung einer neuen humanen Long-chain Acyl-CoA Synthetase 5 Variante

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Long-chain acyl-carnitines interfere with mitochondrial ATP production leading to cardiac dysfunction in zebrafish

Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency

Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Hochschulschrift

Genetics of primary antibody deficiency

Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase

Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

Hochschulschrift

Relevanz von Long-chain Acyl-CoA Synthetase 3 und Perilipin-2/ -3 für den Lipidstoffwechsel, Charakterisierung einer neuen humanen Long-chain Acyl-CoA Synthetase 5 Variante

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Long-chain acyl-carnitines interfere with mitochondrial ATP production leading to cardiac dysfunction in zebrafish

Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency

Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

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Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: clinical symptoms, newborn screening, enzyme activity, and genetics

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Other Objects (12)

Genetics of primary antibody deficiency

Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase

Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

Relevanz von Long-chain Acyl-CoA Synthetase 3 und Perilipin-2/ -3 für den Lipidstoffwechsel, Charakterisierung einer neuen humanen Long-chain Acyl-CoA Synthetase 5 Variante

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Long-chain acyl-carnitines interfere with mitochondrial ATP production leading to cardiac dysfunction in zebrafish

Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency

Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Genetics of primary antibody deficiency

Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase

Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

Relevanz von Long-chain Acyl-CoA Synthetase 3 und Perilipin-2/ -3 für den Lipidstoffwechsel, Charakterisierung einer neuen humanen Long-chain Acyl-CoA Synthetase 5 Variante

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Long-chain acyl-carnitines interfere with mitochondrial ATP production leading to cardiac dysfunction in zebrafish

Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency

Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Genetics of primary antibody deficiency

Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase

Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency detected by newborn screening

Relevanz von Long-chain Acyl-CoA Synthetase 3 und Perilipin-2/ -3 für den Lipidstoffwechsel, Charakterisierung einer neuen humanen Long-chain Acyl-CoA Synthetase 5 Variante

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Long-chain acyl-carnitines interfere with mitochondrial ATP production leading to cardiac dysfunction in zebrafish

Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency

Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

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