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Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

Neuromuscular disorders : NMD, 2017-06, Vol.27 (6), p.581-584

2017

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Patient complexity and GPS' income under mixed remuneration

Health economics, 2012-06, Vol.21 (6), p.619-632

Olsen, K. R.

2012

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Association between refill compliance to oral bisphosphonate treatment, incident fractures, and health care costs—an analysis using national health databases

Osteoporosis international, 2013-10, Vol.24 (10), p.2639-2647

2013

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.533-544

2005

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2045-2054

2007

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Image and surgery-related costs comparing cone beam CT and panoramic imaging before removal of impacted mandibular third molars

Dento-maxillo-facial radiology, 2014-07, Vol.43 (6), p.20140001-20140001

2014

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Economic and health implications of routine CBCT examination before surgical removal of the mandibular third molar in the Danish population

Dento-maxillo-facial radiology, 2015-07, Vol.44 (6), p.20140406

2015

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Neural Basis of Genetically Determined Visuospatial Construction Deficit in Williams Syndrome

Neuron (Cambridge, Mass.), 2004-09, Vol.43 (5), p.623-631

2004

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A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy

JIMD Reports, Volume 45, 2019, Vol.45, p.37-44

2019

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Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Human molecular genetics, 2014-08, Vol.23 (16), p.4285-4301

2014

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Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.671-678

2004

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Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia

Molecular genetics and metabolism reports, 2017-03, Vol.10 (C), p.28-30

2017

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Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Molecular genetics and metabolism, 2007-09, Vol.92 (1), p.109-114

2007

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Studies of tumor-infiltrating lymphocytes from a human choroidal melanoma

Investigative ophthalmology & visual science, 1991-12, Vol.32 (13), p.3198-3208

1991

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The impact of CBCT reconstruction and calibration for radiotherapy planning in the head and neck region - a phantom study

Acta oncologica, 2014-08, Vol.53 (8), p.1114-1124

2014

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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Human molecular genetics, 2012-08, Vol.21 (15), p.3435-3448

2012

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The effectiveness of nationally implemented smoking interventions in Denmark

Preventive medicine, 2007-07, Vol.45 (1), p.12-14

2007

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

American journal of human genetics, 2016-06, Vol.98 (6), p.1130-1145

2016

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Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

Human molecular genetics, 2013-10, Vol.22 (19), p.3819-3827

2013

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Traumatic macular hole: Observations, pathogenesis, and results of vitrectomy surgery

Ophthalmology (Rochester, Minn.), 2001-05, Vol.108 (5), p.853-857

2001

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The relationship between delay period eye movements and visuospatial memory

Journal of vision (Charlottesville, Va.), 2014-01, Vol.14 (1), p.8-8

2014

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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia

JIMD Reports - Case and Research Reports, 2011/2, 2012-01, Vol.2, p.79-85

2012

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KIBRA polymorphism is associated with individual differences in hippocampal subregions: evidence from anatomical segmentation using high-resolution MRI

The Journal of neuroscience, 2013-08, Vol.33 (32), p.13088-13093

2013

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CO18 Real-World Evidence of the Effect of Continuous Subcutaneous Insulin Infusion Vs Multiple Daily Injections on HBA1C in 25,000 Adults with Type 1 Diabetes: A Quasi-Experimental Study

Value in health, 2022-07, Vol.25 (7), p.S307

2022

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Examining cost variation across hospital departments–a two-stage multi-level approach using patient-level data

Social science & medicine (1982), 2010-11, Vol.71 (10), p.1872-1881

2010

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Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

Patient complexity and GPS' income under mixed remuneration

Association between refill compliance to oral bisphosphonate treatment, incident fractures, and health care costs—an analysis using national health databases

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Image and surgery-related costs comparing cone beam CT and panoramic imaging before removal of impacted mandibular third molars

Economic and health implications of routine CBCT examination before surgical removal of the mandibular third molar in the Danish population

Neural Basis of Genetically Determined Visuospatial Construction Deficit in Williams Syndrome

A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia

Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Studies of tumor-infiltrating lymphocytes from a human choroidal melanoma

The impact of CBCT reconstruction and calibration for radiotherapy planning in the head and neck region - a phantom study

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

The effectiveness of nationally implemented smoking interventions in Denmark

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

Traumatic macular hole: Observations, pathogenesis, and results of vitrectomy surgery

The relationship between delay period eye movements and visuospatial memory

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia

KIBRA polymorphism is associated with individual differences in hippocampal subregions: evidence from anatomical segmentation using high-resolution MRI

CO18 Real-World Evidence of the Effect of Continuous Subcutaneous Insulin Infusion Vs Multiple Daily Injections on HBA1C in 25,000 Adults with Type 1 Diabetes: A Quasi-Experimental Study

Examining cost variation across hospital departments–a two-stage multi-level approach using patient-level data

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