Sage Journals: Discover world-class research

Open access

Research article

First published 2017

Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency

Hilary Piercy, Katarzyna Machaczek, Parveen Ali [...]

Global Qualitative Nursing Research

Open access

Research article

First published 2021

“It’s Just Always Eating”: The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency

Hilary Piercy, Charlotte Nutting, Sufin Yap

Global Qualitative Nursing Research

Free access

Research article

First published 1994-1

Population Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Analysis of Medium-Chain Fatty Acids and Acylglyeines in Blood Spots

Michael J Bennett, Marie C Ragni, Robert J Ostfeld [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Research article

First published 2018-4

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

Andraz Smon, Urh Groselj, Marusa Debeljak [...]

Journal of International Medical Research

Free access

Brief report

First published 1990-5

Diagnosis of Medium Chain Acyl-Coa Dehydrogenase (MCAD) Deficiency in an Asymptomatic Neonate

V Walker, G A Mills, G P Weavind [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Free access

Research article

First published 2011-12

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: Prevalence,predictive value and test validity based on 1.5 million screened babies

Juliet Oerton, Javaria M Khalid, Guy Besley [...]

Journal of Medical Screening

Free access

Research article

First published 2008-9

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

J M Khalid, J Oerton, M Cortina-Borja [...]

Journal of Medical Screening

Retricted access

Other

First published 1995-11

Primary and Secondary Carnitine Deficiency Syndromes

Roser Pons, Darryl C. De Vivo

Journal of Child Neurology

Retricted access

Research article

First published 2014-8

Neonatal blood spot testing for genetic conditions

Vasandhara Thoroughgood

InnovAiT: Education and inspiration for general practice

Open access

Review article

First published 2017

Mechanistic Bases of Neurotoxicity Provoked by Fatty Acids Accumulating in MCAD and LCHAD Deficiencies

Alexandre U. Amaral, Cristiane Cecatto, Janaína C. da Silva [...]

Journal of Inborn Errors of Metabolism and Screening

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