Mirjam M.C. Wamelink - Amsterdam University Medical Center

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论文共 83 篇作者统计合作学者相似作者

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Purines and Pyrimidines

Marie van Dijk, Henk van Lenthe,Susanna M. I. Goorden,Mirjam M. C. Wamelink, André B. P. van Kuilenburg

Laboratory Guide to the Methods in Biochemical Geneticspp.107-123, (2024)

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Metabolites of the Pentose Phosphate Pathway

Mirjam M. C. Wamelink,Desirée E. C. Smith

Laboratory Guide to the Methods in Biochemical Geneticspp.197-210, (2024)

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Sulfate: a Neglected (but Potentially Highly Relevant) Anion

Emil den Bakker,Desiree E. C. Smith,Martijn J. J. Finken,Mirjam M. C. Wamelink,Gajja S. Salomons,Jiddeke M. van de Kamp,Arend Bokenkamp

Essays in Biochemistry (2024)

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5,10‐Methenyltetrahydrofolate Synthetase Deficiency: an Extreme Rare Defect of Folate Metabolism in Two Dutch Siblings

Lelde Liepina,Desiree E. C. Smith,Hidde Huidekoper,Shimriet Zeidler,Mirjam Wamelink, Marie-Claire de Wit,Martina Wilke,George Ruijter, Joergen Bierau,Henk J. Blom

JIMD REPORTSno. 2 (2024): 49-55

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Creatine and Its Metabolites

Desirée E. C. Smith,Mirjam M. C. Wamelink,Gajja S. Salomons,Jiddeke M. van de Kamp

Laboratory Guide to the Methods in Biochemical Geneticspp.475-485, (2024)

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Inherited Metabolic Disorders in Adults: Systematic Review on Patient Characteristics and Diagnostic Yield of Broad Sequencing Techniques (exome and Genome Sequencing)

Elise A. Ferreira,Mark J. N. Buijs,Robin Wijngaard,Joost G. Daams,Mareen R. Datema,Marc Engelen,Clara D. M. van Karnebeek,Machteld M. Oud,Frederic M. Vaz,Mirjam M. C. Wamelink,Saskia N. van der Crabben,Mirjam Langeveld

FRONTIERS IN NEUROLOGY (2023)

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A Second Case of Glutaminase Hyperactivity: Expanding the Phenotype with Epilepsy

Lynne Rumping,Petra J. W. Pouwels,Nicole I. Wolf,Holger Rehmann,Mirjam M. C. Wamelink,Quinten Waisfisz,Judith J. M. Jans,Hubertus C. M. T. Prinsen,Jiddeke M. van de Kamp,Peter M. van Hasselt

JIMD REPORTSno. 3 (2023): 217-222

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Succinic Semialdehyde Dehydrogenase Deficiency in Mice and in Humans: an Untargeted Metabolomics Perspective

Tessa M. A. Peters,Udo F. H. Engelke,Siebolt de Boer, Joris T. G. Reintjes,Jean-Baptiste Roullet,Sanne Broekman,Erik de Vrieze,Erwin van Wijk,Mirjam M. C. Wamelink,Rafael Artuch,Ivo Baric,Jona Merx,Thomas J. Boltje,Jonathan Martens,Michel A. A. P. Willemsen,Marcel M. Verbeek,Ron A. Wevers,K. Michael Gibson,Karlien L. M. Coene

Journal of Inherited Metabolic Diseaseno. 3 (2023): 417-430

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Biallelic Variants in the SLC13A1 Sulfate Transporter Gene Cause Hyposulfatemia with a Mild Spondylo‐epi‐metaphyseal Dysplasia

Jiddeke M. van de Kamp,Arend Bokenkamp,Desiree E. C. Smith,Mirjam M. C. Wamelink,Erwin E. W. Jansen,Eduard A. Struys,Quinten Waisfisz,Marieke Verkleij,Michaela F. Hartmann,Rong Wang,Stefan A. Wudy,Chiara Paganini,Antonio Rossi,Martijn J. J. Finken

CLINICAL GENETICS（2023）

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Megalobastic Anemia, Infantile Leukemia, and Immunodeficiency Caused by a Novel Homozygous Mutation in the DHFR Gene

Taco W. Kuijpers,Andrica C. H. de Vries, Eveline van Leeuwen, Anton A. M. Ermens, S. de Pont,Desirée E.C. Smith,Mirjam M. C. Wamelink,Arjen R. Mensenkamp,Marcel Nelen,Hana Lango Allen,Steven T. Pals,Berna Beverloo,Hidde H. Huidekoper,Anja Wagner

Blood advances（2022）

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