Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box

Developmental Medicine & Child Neurology ◽

10.1111/dmcn.12717 ◽

2015 ◽

Vol 57 (4) ◽

pp. 304-306 ◽

Author(s):

Ingrid Tein

Keyword(s):

Fatty Acid Oxidation ◽

Acid Oxidation ◽

Reye Syndrome ◽

Child Neurology ◽

Fatty Acid Oxidation Disorders

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Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study

Clinical Nutrition ESPEN ◽

10.1016/j.clnesp.2020.11.018 ◽

2020 ◽

Author(s):

Jerry Vockley ◽

Nicola Longo ◽

Megan Madden ◽

Lauren Dwyer ◽

Yunming Mu ◽

...

Keyword(s):

Fatty Acid Oxidation ◽

Chain Fatty Acid ◽

Acid Oxidation ◽

Dietary Management ◽

Phase 2 ◽

Long Chain Fatty Acid ◽

Fatty Acid Oxidation Disorders ◽

Clinical Events ◽

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UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2017.02.005 ◽

2017 ◽

Vol 120 (4) ◽

pp. 370-377 ◽

Author(s):

J. Vockley ◽

B. Burton ◽

G.T. Berry ◽

N. Longo ◽

J. Phillips ◽

...

Keyword(s):

Fatty Acid Oxidation ◽

Chain Fatty Acid ◽

Acid Oxidation ◽

Long Chain Fatty Acid ◽

Safety And Efficacy ◽

Fatty Acid Oxidation Disorders ◽

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Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)34472-2 ◽

2000 ◽

Vol 41 (3) ◽

pp. 336-342

Author(s):

Sacha Ferdinandusse ◽

Simone Denis ◽

Emanuel van Berkel ◽

Georges Dacremont ◽

Ronald J.A. Wanders

Keyword(s):

Fatty Acid Oxidation ◽

Acid Oxidation ◽

Carrier Protein ◽

Sterol Carrier Protein ◽

Fatty Acid Oxidation Disorders ◽

Activity Measurements ◽

Protein X ◽

Peroxisomal Fatty Acid Oxidation ◽

Peroxisomal Fatty Acid

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PRO79 QUALITATIVE EXPLORATION OF THE PATIENT EXPERIENCE OF LONG-CHAIN FATTY ACID OXIDATION DISORDERS

Value in Health ◽

10.1016/j.jval.2020.04.1300 ◽

2020 ◽

Vol 23 ◽

pp. S342-S343

Author(s):

R. Hall ◽

E. Kruger ◽

A. Bowden ◽

T. Cimms ◽

A. Skrinar ◽

...

Keyword(s):

Fatty Acid Oxidation ◽

Patient Experience ◽

Chain Fatty Acid ◽

Acid Oxidation ◽

Long Chain Fatty Acid ◽

Fatty Acid Oxidation Disorders ◽

Qualitative Exploration ◽

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Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-010-9090-x ◽

2010 ◽

Vol 33 (5) ◽

pp. 527-532 ◽

Author(s):

Ute Spiekerkoetter

Keyword(s):

Fatty Acid Oxidation ◽

Clinical Presentation ◽

Chain Fatty Acid ◽

Acid Oxidation ◽

Long Chain Fatty Acid ◽

Mitochondrial Fatty Acid Oxidation ◽

Fatty Acid Oxidation Disorders ◽

Mitochondrial Fatty Acid ◽

Before And After

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A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids ◽

10.1016/s1388-1981(02)00296-2 ◽

2002 ◽

Vol 1584 (2-3) ◽

pp. 91-98 ◽

Author(s):

Jürgen G Okun ◽

Stefan Kölker ◽

Andreas Schulze ◽

Dirk Kohlmüller ◽

Katharina Olgemöller ◽

...

Keyword(s):

Palmitic Acid ◽

Fatty Acid Oxidation ◽

Skin Fibroblasts ◽

Acid Oxidation ◽

Human Skin Fibroblasts ◽

Mcad Deficiency ◽

Fatty Acid Oxidation Disorders

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The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders

Biochemical and Biophysical Research Communications ◽

10.1016/j.bbrc.2013.07.020 ◽

2013 ◽

Vol 437 (4) ◽

pp. 637-641 ◽

Author(s):

Uzochi Chimdinma Ndukwe Erlingsson ◽

Francesco Iacobazzi ◽

Aiping Liu ◽

Orly Ardon ◽

Marzia Pasquali ◽

...

Keyword(s):

Fatty Acid Oxidation ◽

Acid Oxidation ◽

Fatty Acid Oxidation Disorders

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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2015.09.005 ◽

2015 ◽

Vol 5 ◽

pp. 26-32 ◽

Author(s):

Takuma Yamamoto ◽

Hiroyuki Mishima ◽

Hajime Mizukami ◽

Yuki Fukahori ◽

Takahiro Umehara ◽

...

Keyword(s):

Next Generation Sequencing ◽

Fatty Acid Oxidation ◽

Sudden Unexpected Death ◽

Acid Oxidation ◽

Next Generation ◽

Unexpected Death ◽

Postmortem Diagnosis ◽

Fatty Acid Oxidation Disorders ◽

Generation Sequencing

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Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years.

Molecular Pathology ◽

10.1136/mp.50.4.212 ◽

1997 ◽

Vol 50 (4) ◽

pp. 212-217 ◽

Author(s):

J B Lundemose ◽

S Kolvraa ◽

N Gregersen ◽

E Christensen ◽

M Gregersen

Keyword(s):

Young Children ◽

Fatty Acid Oxidation ◽

Acid Oxidation ◽

Unexpected Death ◽

Cultured Fibroblasts ◽

Fatty Acid Oxidation Disorders ◽

Infants And Young Children

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Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

The Journal of Pediatrics ◽

10.1016/s0022-3476(98)70385-3 ◽

1998 ◽

Vol 132 (6) ◽

pp. 924-933 ◽

Author(s):

Richard G. Boles ◽

Elizabeth A. Buck ◽

Miriam G. Blitzer ◽

Marvin S. Platt ◽

Tina M. Cowan ◽

...

Keyword(s):

Sudden Death ◽

Fatty Acid Oxidation ◽

Acid Oxidation ◽

Biochemical Screening ◽

Fatty Acid Oxidation Disorders ◽

First Year Of Life

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