Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency ; volume:8 ; number:1 ; day:10 ; month:7 ; year:2013 ; pages:1-6 ; date:12.2013
Orphanet journal of rare diseases ; 8, Heft 1 (10.7.2013), 1-6, 12.2013
- Creator
-
Couce, María Luz
- Contributor
-
Sánchez-Pintos, Paula
Diogo, Luisa
Leão-Teles, Elisa
Martins, Esmeralda
Santos, Helena
Bueno, Maria Amor
Delgado-Pecellín, Carmen
Castiñeiras, Daisy E.
Cocho, José A.
García-Villoria, Judit
Ribes, Antonia
Fraga, José M.
Rocha, Hugo
SpringerLink (Online service)
- DOI
-
10.1186/1750-1172-8-102
- URN
-
urn:nbn:de:1111-2016050123452
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2024, 10:58 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
- Couce, María Luz
- Sánchez-Pintos, Paula
- Diogo, Luisa
- Leão-Teles, Elisa
- Martins, Esmeralda
- Santos, Helena
- Bueno, Maria Amor
- Delgado-Pecellín, Carmen
- Castiñeiras, Daisy E.
- Cocho, José A.
- García-Villoria, Judit
- Ribes, Antonia
- Fraga, José M.
- Rocha, Hugo
- SpringerLink (Online service)
Other Objects (12)
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency
Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency
Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency
Immunochemical and molecular analysis of medium-chain acyl CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
Long-chain specific enzyme from medium-chain acyl-CoA dehydrogenase
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study