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1-7 of 7 results for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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Available accessAnnouncementFirst published May, 2008

Ophthalmologic Abnormalities in Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: Presentation of a Long-Term Survivor

V. Sturm

European Journal of Ophthalmology

Available accessReview articleFirst published 2026

The prevalence of the common LCHAD c.1528G>C p.(Glu510Gln) pathogenic variant in women diagnosed with acute fatty liver of pregnancy

Jinwen He, Liza Phillips, Janelle Nisbet [...]

Obstetric Medicine

Open accessReview articleFirst 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

Retricted accessResearch articleFirst published March, 2005

Homogeneous Amplification Nucleobase Quenching Assay to Detect the E474Q LCHAD Deficiency Mutation

John H. McClaskey, Adam R. Leman, Paul G. Rothberg

Genetic Testing and Molecular Biomarkers

Free accessCase reportFirst published November, 2023

Fetal Bowel Dilatation Associated With LCHAD Deficiency: A New Sonographic Finding

Vanessa Vieira, Filipa Sousa, Fabiana Ramos [...]

Journal of Diagnostic Medical Sonography

Available accessCase reportFirst published December, 2014

Transient Central Diabetes Insipidus Induced by Ketamine Infusion

Sarah Z. Hatab, Arun Singh, Eric I. Felner [...]

Annals of Pharmacotherapy

Retricted accessResearch articleFirst published January, 1999

Prepregnancy Testing for Single-Gene Disorders by Polar Body Analysis

Y. Verlinsky, S. Rechitsky, O. Verlinsky [...]

Genetic Testing and Molecular Biomarkers

Search results

Articles (7)

Journals (0)

1-7 of 7 results for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Sort by:

Relevance

Select all

Sort by:

Relevance

Available accessAnnouncementFirst published May, 2008

Ophthalmologic Abnormalities in Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: Presentation of a Long-Term Survivor

V. Sturm

European Journal of Ophthalmology

Available accessReview articleFirst published 2026

The prevalence of the common LCHAD c.1528G>C p.(Glu510Gln) pathogenic variant in women diagnosed with acute fatty liver of pregnancy

Jinwen He, Liza Phillips, Janelle Nisbet [...]

Obstetric Medicine

Open accessReview articleFirst 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

Retricted accessResearch articleFirst published March, 2005

Homogeneous Amplification Nucleobase Quenching Assay to Detect the E474Q LCHAD Deficiency Mutation

John H. McClaskey, Adam R. Leman, Paul G. Rothberg

Genetic Testing and Molecular Biomarkers

Free accessCase reportFirst published November, 2023

Fetal Bowel Dilatation Associated With LCHAD Deficiency: A New Sonographic Finding

Vanessa Vieira, Filipa Sousa, Fabiana Ramos [...]

Journal of Diagnostic Medical Sonography

Available accessCase reportFirst published December, 2014

Transient Central Diabetes Insipidus Induced by Ketamine Infusion

Sarah Z. Hatab, Arun Singh, Eric I. Felner [...]

Annals of Pharmacotherapy

Retricted accessResearch articleFirst published January, 1999

Prepregnancy Testing for Single-Gene Disorders by Polar Body Analysis

Y. Verlinsky, S. Rechitsky, O. Verlinsky [...]

Genetic Testing and Molecular Biomarkers