C. de Laet

发表

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

A. Vanderver, Y. Crow, Naoki Kitabayashi, 2017, Neuropediatrics.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

A. Vanderver, Y. Crow, Naoki Kitabayashi, 2017, Neuropediatrics.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Dietary practices in propionic acidemia: A European survey

F. Eyskens, D. Cassiman, F. de Boer, 2017, Molecular genetics and metabolism reports.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

C. Hollak, F. Eyskens, D. Cassiman, 2022, Journal of inherited metabolic disease.

Shoshin Beriberi and Severe Accidental Hypothermia as Causes of Heart Failure in a 6-Year-Old Child: A Case Report and Brief Review of Literature

M. Massin, D. Biarent, A. Willems, 2019, Front. Pediatr..

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Recommendations for the management of tyrosinaemia type 1

J. Leonard, G. Pintos-Morell, C. Dionisi-Vici, 2013, Orphanet Journal of Rare Diseases.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management

J. Stalens, C. de Laet, A. Vicinanza, 2020, Pediatric reports.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

M. Baumgartner, T. Suormala, D. S. Froese, 2017, The Journal of Biological Chemistry.

Dietary practices in isovaleric acidemia: A European survey

F. Eyskens, D. Cassiman, F. de Boer, 2017, Molecular genetics and metabolism reports.

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

S. Seneca, E. Buratti, W. Lissens, 2017, Journal of Molecular Medicine.

P. Goyens, P. Bourdoux, C. de Laet, 2005, Clinical chemistry.

Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study.

M. Couce, C. Dionisi-Vici, A. Lund, 2021, The lancet. Diabetes & endocrinology.

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

F. Eyskens, D. Cassiman, S. Huijbregts, 2016, Orphanet Journal of Rare Diseases.

Evaluation of nutritional care of hospitalized children in a tertiary pediatric hospital.

P. Goyens, S. Defourny, C. de Laet, 2018, Clinical nutrition ESPEN.

Plasma homocysteine concentration in a Belgian school-age population.

J. Boeynaems, M. Dramaix, D. Brasseur, 1999, The American journal of clinical nutrition.

Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant

G. Smits, C. Vilain, G. Deprez, 2021, Pediatric reports.

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

S. Seneca, M. Vincent, C. Barrea, 2016, Molecular genetics and metabolism.

Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock.

D. Cassiman, A. Meulemans, F. Debray, 2011, The Journal of pediatrics.

Ascites in infantile onset type II Sialidosis

A. Gheldof, C. de Laet, V. Guy-Viterbo, 2022, JIMD reports.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Downward trends in the prevalence of childhood overweight in two pilot towns taking part in the VIASANO community‐based programme in Belgium: data from a national school health monitoring system

S. Jebb, N. Jacobs, J. Borys, 2015, Pediatric obesity.

Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy

A. Aeby, J. König, C. Vilain, 2022, Annals of clinical and translational neurology.

Neuropsychological outcome of NTBC‐treated patients with tyrosinaemia type 1

B. Dan, J. Jaeken, E. Sokal, 2011, Developmental medicine and child neurology.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

F. Eyskens, D. Cassiman, S. Huijbregts, 2019, Orphanet Journal of Rare Diseases.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

T. Suormala, D. S. Froese, P. Burda, 2017, The Journal of Biological Chemistry.