Mirian C Janssen

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Authors:

Karien Esterhuizen J Zander Lindeque Shayne Mason Francois H van der Westhuizen Richard J Rodenburg Paul de Laat Jan A M Smeitink Mirian C H Janssen Roan Louw

Metabolomics 2021 01 12;17(1):10. Epub 2021 Jan 12.

Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.

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January 2021

A predictive model for estimating the number of erythrocytapheresis or phlebotomy treatments for patients with naïve hereditary hemochromatosis.

Authors:

Eva Rombout-Sestrienkova Bjorn Winkens Marian van Kraaij Cees Th B M van Deursen Mirian C H Janssen Alexander M J Rennings Dorothea Evers Jean-Louis Kerkhoffs Ad Masclee Ger H Koek

J Clin Apher 2020 Dec 24. Epub 2020 Dec 24.

Department of Internal Medicine, Division of Gastroenterology and Hepatology, Maastricht University Medical Center, Maastricht, The Netherlands.

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December 2020

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.

Authors:

Mendy M Welsink-Karssies Anouk Schrantee Matthan W A Caan Carla E M Hollak Mirian C H Janssen Esmee Oussoren Maaike C de Vries Stefan D Roosendaal Marc Engelen Annet M Bosch

Mol Genet Metab 2020 Dec 6;131(4):370-379. Epub 2020 Nov 6.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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December 2020

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Authors:

Cecilia Marelli Christian Lavigne Karolina M Stepien Mirian C H Janssen Francois Feillet Viktor Kožich Pavel Jesina Rebecca Schule Christoph Kessler Isabelle Redonnet-Vernhet Adeline Regnier Patricie Burda Matthias Baumgartner Jean-Francois Benoist Martina Huemer Fanny Mochel

J Inherit Metab Dis 2020 Oct 22. Epub 2020 Oct 22.

APHP, La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France.

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October 2020

Response to Energy Requirements in m.3243A>G Carriers Depend on Multiple Factors.

Authors:

Heidi E E Zweers Mirian C H Janssen Geert J A Wanten

JPEN J Parenter Enteral Nutr 2020 Oct 5. Epub 2020 Oct 5.

Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, the Netherlands.

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October 2020

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.

Authors:

Mendy M Welsink-Karssies Sacha Ferdinandusse Gert J Geurtsen Carla E M Hollak Hidde H Huidekoper Mirian C H Janssen Janneke G Langendonk Johanna H van der Lee Roisin O'Flaherty Kim J Oostrom Stefan D Roosendaal M Estela Rubio-Gozalbo Radka Saldova Eileen P Treacy Fred M Vaz Maaike C de Vries Marc Engelen Annet M Bosch

Brain Commun 2020 29;2(1):fcaa006. Epub 2020 Jan 29.

Division of Metabolic Disorders, Department of Pediatrics, Emma Children's Hospital, Amsterdam, UMC, University of Amsterdam, Amsterdam, the Netherlands.

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January 2020

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Authors:

Mendy M Welsink-Karssies Kim J Oostrom Merel E Hermans Carla E M Hollak Mirian C H Janssen Janneke G Langendonk Esmee Oussoren M Estela Rubio Gozalbo Maaike de Vries Gert J Geurtsen Annet M Bosch

Orphanet J Rare Dis 2020 09 7;15(1):238. Epub 2020 Sep 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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September 2020

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.

Authors:

Heidi E E Zweers Mirian C H Janssen Geert J A Wanten

JPEN J Parenter Enteral Nutr 2020 Jul 22. Epub 2020 Jul 22.

Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, the Netherlands.

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July 2020

Mitochondrial migraine; a prevalence, impact and treatment efficacy cohort study.

Authors:

Laurie H Tiehuis Saskia Koene Christiaan G J Saris Mirian C H Janssen

Mitochondrion 2020 07 25;53:128-132. Epub 2020 May 25.

Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands; Radboud University Medical Center, Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands. Electronic address:

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July 2020

Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.

Authors:

Koenraad R P Veys Mohamed A Elmonem Maria Van Dyck Mirian C Janssen Elisabeth A M Cornelissen Katharina Hohenfellner Giusi Prencipe Lambertus P van den Heuvel Elena Levtchenko

J Am Soc Nephrol 2020 05 9;31(5):1092-1106. Epub 2020 Apr 9.

Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium

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May 2020

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Authors:

Kim F E van de Loo José A E Custers Saskia Koene Inge-Lot Klein Mirian C H Janssen Jan A M Smeitink Christianne M Verhaak

Orphanet J Rare Dis 2020 03 24;15(1):76. Epub 2020 Mar 24.

Radboud Institute for Health Sciences, Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands.

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March 2020

Association of Body Composition, Physical Functioning, and Protein Intake in Adult Patients With Mitochondrial Diseases.

Authors:

Heidi E E Zweers Valentine Bordier Jeanne In 't Hulst Mirian C H Janssen Geert J A Wanten Susanne Leij-Halfwerk

JPEN J Parenter Enteral Nutr 2020 Mar 19. Epub 2020 Mar 19.

Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, the Netherlands.

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March 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Authors:

Mendy M Welsink-Karssies Kim J Oostrom Merel E Hermans Carla E M Hollak Mirian C H Janssen Janneke G Langendonk Esmee Oussoren M Estela Rubio Gozalbo Maaike de Vries Gert J Geurtsen Annet M Bosch

Orphanet J Rare Dis 2020 02 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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February 2020

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Authors:

Mendy M Welsink-Karssies Michel van Weeghel Carla E M Hollak Hyung L Elfrink Mirian C H Janssen Kent Lai Janneke G Langendonk Esmee Oussoren Jos P N Ruiter Eileen P Treacy Maaike de Vries Sacha Ferdinandusse Annet M Bosch

Mol Genet Metab 2020 03 9;129(3):171-176. Epub 2020 Jan 9.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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March 2020

Does the 48-hour BH4 loading test miss responsive PKU patients?

Authors:

Annemiek M J van Wegberg Roeland A F Evers Esther van Dam Maaike C de Vries Mirian C H Janssen M Rebecca Heiner-Fokkema Francjan J van Spronsen

Mol Genet Metab 2020 03 24;129(3):186-192. Epub 2019 Dec 24.

Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands. Electronic address:

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March 2020

The 1- C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.

Authors:

Mendy M Welsink-Karssies Dewi van Harskamp Sacha Ferdinandusse Carla E M Hollak Hidde H Huidekoper Mirian C H Janssen E Marleen Kemper Janneke G Langendonk M Estela Rubio-Gozalbo Maaike C de Vries Frits A Wijburg Henk Schierbeek Annet M Bosch

J Inherit Metab Dis 2020 05 22;43(3):507-517. Epub 2020 Jan 22.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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May 2020

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Authors:

Hanneke A Haijes Femke Molema Mirjam Langeveld Mirian C Janssen Annet M Bosch Francjan van Spronsen Margot F Mulder Nanda M Verhoeven-Duif Judith J M Jans Ans T van der Ploeg Margreet A Wagenmakers M Estela Rubio-Gozalbo Martijn C G J Brouwers Maaike C de Vries Janneke G Langendonk Monique Williams Peter M van Hasselt

J Inherit Metab Dis 2020 05 22;43(3):424-437. Epub 2019 Dec 22.

Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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May 2020

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.

Authors:

Paul de Laat Nienke van Engelen Jack F Wetzels Jan A M Smeitink Mirian C H Janssen

Clin Kidney J 2019 Dec 21;12(6):840-846. Epub 2019 Apr 21.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, The Netherlands.

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December 2019