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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.3003-3013

2023

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Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

International journal of molecular sciences, 2023-02, Vol.24 (4), p.4003

2023

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Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content

The journal of clinical endocrinology and metabolism, 2019-11, Vol.104 (11), p.5056-5064

2019

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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2253

2022

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Solute trapping in Al-Cu alloys caused by a 29 Tesla super high static magnetic field

Scientific reports, 2019-01, Vol.9 (1), p.266-266, Article 266

2019

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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes

Frontiers in endocrinology (Lausanne), 2014-01, Vol.5, p.109-109

2014

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Estimation of Physical and Electrical Properties of Various REBCO Tapes for Construction of Very-High-Field REBCO Magnet

IEEE transactions on applied superconductivity, 2024-08, Vol.34 (5), p.1-5

2024

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Metal-as-Insulation REBCO Insert: Simplified Protection Scheme and Investigation of Cooling Defect Under High-Field Operation

IEEE transactions on applied superconductivity, 2024-08, Vol.34 (5), p.1-5

2024

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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

Journal of medical genetics, 2011-03, Vol.48 (3), p.183-189

2011

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636

2021

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Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease

Pediatrics (Evanston), 2012-04, Vol.129 (4), p.e1076-e1079

2012

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Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco

Annales de biologie clinique (Paris), 2021-02, Vol.79 (1), p.49

2021

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Mechanical properties of thick 304L stainless steel deposits processed by He cold spray

Surface & coatings technology, 2015-09, Vol.277 (74), p.74-80

2015

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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.736-742

2013

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Droplet Evolution and Refinement During Liquid–Liquid Decomposition of Zn-6 Wt Pct Bi Immiscible Alloy Under High Static Magnetic Fields

Metallurgical and materials transactions. A, Physical metallurgy and materials science, 2018-08, Vol.49 (8), p.3333-3345

2018

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Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance

Clinical nutrition (Edinburgh, Scotland), 2021-06, Vol.40 (6), p.4246-4254

2021

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Kidney and vascular function in adult patients with hereditary fructose intolerance

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100600-100600, Article 100600

2020

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Energy- and exergy-based optimal designs of a low-temperature industrial waste heat recovery system in district heating

Energy conversion and management, 2020-05, Vol.211, p.112753, Article 112753

2020

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On the mechanical and electrical properties of copper-silver and copper-silver-zirconium alloys deposits manufactured by cold spray

Materials science & engineering. A, Structural materials : properties, microstructure and processing, 2016-04, Vol.662, p.72-79

2016

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Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

American journal of medical genetics. Part A, 2007-09, Vol.143A (17), p.2046-51

2007

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Disorders of mitochondrial function

Current opinion in pediatrics, 2008-08, Vol.20 (4), p.471-482

2008

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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature genetics, 2015-01, Vol.47 (1), p.73-77

2015

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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

Mitochondrion, 2014-07, Vol.17, p.101-105

2014

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1147-1153

2015

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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

Solute trapping in Al-Cu alloys caused by a 29 Tesla super high static magnetic field

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes

Estimation of Physical and Electrical Properties of Various REBCO Tapes for Construction of Very-High-Field REBCO Magnet

Metal-as-Insulation REBCO Insert: Simplified Protection Scheme and Investigation of Cooling Defect Under High-Field Operation

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease

Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco

Mechanical properties of thick 304L stainless steel deposits processed by He cold spray

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Droplet Evolution and Refinement During Liquid–Liquid Decomposition of Zn-6 Wt Pct Bi Immiscible Alloy Under High Static Magnetic Fields

Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance

Kidney and vascular function in adult patients with hereditary fructose intolerance

Energy- and exergy-based optimal designs of a low-temperature industrial waste heat recovery system in district heating

On the mechanical and electrical properties of copper-silver and copper-silver-zirconium alloys deposits manufactured by cold spray

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

Disorders of mitochondrial function

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

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