Belgian Journal of Paediatrics
Metabolic diseases

Metabolic diseases

12 Items

All Items

Maureen Vandenbroucke, Fanny Depasse, Nadejda Ranguelov, Eric Cavatorta, Olivier Gilliaux
143-146
A case report of a rare cause of hypophosphatemic rickets--cystinosis
PDF
Alexis Dembour, Dana Dumitriu, Sara Seneca, Joseph Dewulf, Stéphanie Paquay, Marie-Cécile Nassogne
51-54
Acute Late-onset Pyruvate Dehydrogenase Deficiency with Specific Diagnostic Clues : Report of Five New Patients
PDF
David Aktan, Charlotte Mouraux, Serpil Alkan, Frédérique Depierreux
303-308
Cervical Dystonia as an Underrecognised Feature of Gaucher Disease Type 3: Successful Treatment With Botulinum Toxin in Two Paediatric Siblings
PDF
Rosalie Weyns, Luc Vandenbossche , Jaan Toelen, Peter Witters
214-217
Erythromelalgia in a young adolescent male.
PDF
Ninon Chelon, Françoise Mouchet, Aurélie Empain, Audrey Van Hecke
168-170
Failure to thrive, from a frequent symptom to a rare diagnosis
PDF
Valerie Jacquemin, Kristine Hovhannesyan, Tamara Dangouloff, Davood Mashhadizadeh, Myriam Mni, Catherine Pieltain, Sebastien Grandfils, Vincent Rigo, Nadege Hennuy, Francois Boemer, Laurent Servais
327-332
Genomic Newborn Screening in Belgium: Opening the Debate of Public Health Evaluation
PDF
Trees Kempen, Kristien Evens
177-178
Idiopathic infantile hypercalcemia in a child presenting with failure to thrive: a case report
PDF
François Eyskens
325
Newborn Screening
PDF
Daisy Rymen, Peter Witters, Yasmina Dejonckheere
219-222
Pearson syndrome as a rare cause of liver dysfunction and malabsorption
PDF
Semaja Louise Bottse, Sabine Verbeek, Alice Brooks, Esmeralda Oussoren, Johanna van den Hout
147-149
The Diagnostic Process of an Ultra-Rare Disease: Free Sialic Acid Storage Disorder (Salla disease) in a 11-Month-old Infant, a Case Report
PDF
Phebe Debouver, Lara Garabedian, Patrick Verloo, Annelies Keymeulen
135-136
The medical and ethical challenges of extremely low birth weight infants with severe comorbidity: a case report of a 26 weeks old neonate with Maple Syrup Urine Disease
PDF
Lisa Neven, Ingele Casteels, Peter Witters, Katrien Jansen, Catherine Cassiman
148-150
Treatment-resistant papilledema in a boy with homocystinuria
PDF