Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice

por Leen, Wilhelmina G., Willemsen, Michèl A., Wevers, Ron A., Verbeek, Marcel M.
Publicado 2012

Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?

por Besouw, Martine T. P., Levtchenko, Elena N., Willemsen, Michèl A. A. P., Noordam, Kees
Publicado 2007

Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome

por van Gemert, Loes A., van Alfen, Nens, van Gaal, Lizzy, Wortmann, Saskia, Willemsen, Michèl A.
Publicado 2023

The measurement of urinary Δ(1)-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

por Struys, Eduard A., Bok, Levinus A., Emal, Dina, Houterman, Saskia, Willemsen, Michel A., Jakobs, Cornelis
Publicado 2012

Clinical practice: Swallowing problems in cerebral palsy

por Erasmus, Corrie E., van Hulst, Karen, Rotteveel, Jan J., Willemsen, Michel A. A. P., Jongerius, Peter H.
Publicado 2011

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

por Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.
Publicado 2021

Lactate infusion as therapeutical intervention: a scoping review

por van Gemert, Loes A., de Galan, Bastiaan E., Wevers, Ron A., ter Heine, Rob, Willemsen, Michèl A.
Publicado 2022

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

por van Tol, Walinka, Ashikov, Angel, Korsch, Eckhard, Abu Bakar, Nurulamin, Willemsen, Michèl A., Thiel, Christian, Lefeber, Dirk J.
Publicado 2019

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation

por RICHTERS, Renée J. H., SEYGER, Marieke M. B., MEEUWIS, Kim A. P., RINNE, Tuula, EIJKELENBOOM, Astrid, WILLEMSEN, Michěl A.
Publicado 2020

Unexplained hypothermia and bradycardia in two pediatric patients with Wegener’s granulomatosis

por Geerdink, Lianne M., Koster-Kamphuis, Linda, Cornelissen, Elisabeth A. M., Willemsen, Michèl A., van de Kar, Nicole C. A. J.
Publicado 2010

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

por Tinnevelt, Gerjen H., Engelke, Udo F.H., Wevers, Ron A., Veenhuis, Stefanie, Willemsen, Michel A., Coene, Karlien L.M., Kulkarni, Purva, Jansen, Jeroen J.
Publicado 2020

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia

por Blom, Maartje, Schoenaker, Michiel H. D., Hulst, Myrthe, de Vries, Martine C., Weemaes, Corry M. R., Willemsen, Michèl A. A. P., Henneman, Lidewij, van der Burg, Mirjam
Publicado 2019

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

por Staps, Pippa, van Gaalen, Judith, van Domburg, Peter., Steijlen, Peter M., Ferdinandusse, Sacha, den Heijer, Tom, Seyger, Marieke M. B., Theelen, Thomas, Willemsen, Michèl A. A. P.
Publicado 2020

Dysarthria in children and adults with ataxia telangiectasia

por Veenhuis, Stefanie J G, van OS, Nienke J H, van Gerven, Marjo H J C, van Haaften, Leenke, Mulder, Elisabeth H, Weemaes, Corry M R, Willemsen, Michèl A A P
Publicado 2021

Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial

por Verhaegh, Anke P. M., Groen, Brenda E., Aarts, Pauline B. M., van Ee, Raymond, Willemsen, Michèl A. A. P., Jongsma, Marijtje L. A., Nijhuis-van der Sanden, Maria W. G.
Publicado 2023

Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor

por Küsters-Vandevelde, Heidi VN, Willemsen, Annelieke ECAB, Groenen, Patricia JTA, Küsters, Benno, Lammens, Martin, Wesseling, Pieter, Djafarihamedani, Melika, Rijntjes, Jos, Delye, Hans, Willemsen, Michel A, van Herpen, Carla ML, Blokx, Willeke AM
Publicado 2014

Classic ataxia-telangiectasia: the phenotype of long-term survivors

por van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.
Publicado 2019

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

por Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita
Publicado 2022

Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles

por Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, van der Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.
Publicado 2020

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

por Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., de Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.
Publicado 2020