scholarly journals Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?

2021 ◽  
Author(s):  
Sara Tucci ◽  
Christine Wagner ◽  
Sarah C. Grünert ◽  
Uta Matysiak ◽  
Natalie Weinhold ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Residual Enzyme Activity ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

2012 ◽  
Vol 7 (1) ◽  
pp. 30 ◽  
Author(s):  
Catharina M L Touw ◽  
G Peter A Smit ◽  
Maaike de Vries ◽  
Johannis B C de Klerk ◽  
Annet M Bosch ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Cohort Study ◽  
Risk Stratification ◽  
Newborn Screening ◽  
Residual Enzyme Activity ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

2012 ◽  
Vol 38 (1) ◽  
pp. 59 ◽  
Author(s):  
Cristina Lovera ◽  
Francesco Porta ◽  
Anna Caciotti ◽  
Serena Catarzi ◽  
Michela Cassanello ◽  
...  
Keyword(s):  
Infant Death ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Sudden Unexpected Infant Death ◽  
Chain Acyl ◽  
Unexpected Infant Death

Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

2005 ◽  
Vol 94 (1) ◽  
pp. 114-116 ◽  
Author(s):  
K. Maclean ◽  
V. Rasiah ◽  
E. Kirk ◽  
K. Carpenter ◽  
S. Cooper ◽  
...  
Keyword(s):  
Cardiac Dysfunction ◽  
Pulmonary Haemorrhage ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

2019 ◽  
Vol 42 (5) ◽  
pp. 890-897 ◽  
Author(s):  
Emmalie A. Jager ◽  
Myrthe M. Kuijpers ◽  
Annet M. Bosch ◽  
Margot F. Mulder ◽  
Estela R. Gozalbo ◽  
...  
Keyword(s):  
The Netherlands ◽  
Observational Study ◽  
Newborn Screening ◽  
Retrospective Observational Study ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

2007 ◽  
Vol 94 (1) ◽  
pp. 114-116
Author(s):  
K. Maclean ◽  
V. S. Rasiah ◽  
E. P. E. Kirk ◽  
K. Carpenter ◽  
S. Cooper ◽  
...  
Keyword(s):  
Cardiac Dysfunction ◽  
Pulmonary Haemorrhage ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Michael Pugliese ◽  
◽  
Kylie Tingley ◽  
Andrea Chow ◽  
Nicole Pallone ◽  
...  
Keyword(s):  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

1994 ◽  
Vol 17 (3) ◽  
pp. 275-278
Author(s):  
B. S. Andresen ◽  
P. Bross ◽  
I. Knudsen ◽  
V. Winter ◽  
S. K�lvraa ◽  
...  
Keyword(s):  
Common Mutation ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl ◽  
The Common ◽  
Low Levels
Sign in / Sign up

Export Citation Format

Share Document