Search Results - "Zeevaert, R"

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1 by Zeevaert, Renate, Foulquier, François, Dimitrov, Boyan, Reynders, Ellen, Van Damme-Lombaerts, Rita, Simeonov, Emil, Annaert, Wim, Matthijs, Gert, Jaeken, Jaak

“…We describe two patients with a cerebrocostomandibular-like syndrome and a novel mutation in conserved oligomeric Golgi (COG) subunit 1, one of the subunits of…”
Get full text

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern by Mohamed, M., Guillard, M., Wortmann, S.B., Cirak, S., Marklova, E., Michelakakis, H., Korsch, E., Adamowicz, M., Koletzko, B., van Spronsen, F.J., Niezen-Koning, K.E., Matthijs, G., Gardeitchik, T., Kouwenberg, D., Lim, B. Chan, Zeevaert, R., Wevers, R.A., Lefeber, D.J., Morava, E.

“…Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including…”
Get full text

Identification of a novel PEX14 mutation in Zellweger syndrome by Huybrechts, S J, Van Veldhoven, P P, Hoffman, I, Zeevaert, R, de Vos, R, Demaerel, P, Brams, M, Jaeken, J, Fransen, M, Cassiman, D

“…Peroxisome biogenesis disorders are a clinically and genetically heterogeneous group of very severe autosomal recessive disorders caused by impaired peroxisome…”
Get more information

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 by Zeevaert, R., de Zegher, F., Sturiale, L., Garozzo, D., Smet, M., Moens, M., Matthijs, G., Jaeken, J.

“…Three patients belonging to two families presented with a psychomotor-dysmorphism syndrome including postnatal growth deficiency and major spondylo-, epi-, and…”
Get full text

MLP023 CDG phenotype characterized by failure to thrive, hypotonia, microcephaly and hyperthermia in two infants of North African origin by Jansen, A, Keymolen, K, Zeevaert, R, Matthijs, G, Carchon, H, Jaeken, J, De Meirleir, L

Get full text

Effect of an Integrated, Multidisciplinary Nationwide Approach to Type 1 Diabetes Care on Metabolic Outcomes: An Observational Real-World Study by Lavens, Astrid, Nobels, Frank, De Block, Christophe, Oriot, Philippe, Verhaegen, Ann, Chao, Suchsia, Casteels, Kristina, Mouraux, Thierry, Doggen, Kris, Mathieu, Chantal

“…Achieving good metabolic control in people with type 1 diabetes (T1D) remains a challenge, despite the evolutions in diabetes technologies over the past…”
Get more information

Low serum FT4 and cortisol concentrations in early onset hyperphagic obesity: a clue to SIM1 deficiency by Zeevaert, R, Gies, I, Vanbesien, J, De Schepper, J

“…Het psychomotor development was delayed and behavioral problems increased with age. Because of learning difficulties, she received special education type 8…”
Get full text

Validation of Prediction Models for Near Adult Height in Children with Idiopathic Growth Hormone Deficiency Treated with Growth Hormone: A Belgian Registry Study by Straetemans, Saartje, De Schepper, Jean, Thomas, Muriel, Verlinde, Franciska, Rooman, Raoul

“…To validate prediction models for near final adult height (nFAH) by Ranke et al. [Horm Res Paediatr 2013;79:51-67]. Height data of 127 (82 male) idiopathic…”
Get more information

Identification of a novel PEX14 mutation in Zellweger syndrome by Huybrechts, Sofie J, Van Veldhoven, Paul P, Hoffman, Ilse, Zeevaert, Renate, de Vos, Rita, Demaerel, Philippe, Brams, Marijke, Jaeken, Jaak, Fransen, Marc, Cassiman, David

“…Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, and hepatomegaly. Abnormal…”
Get full text