Publications by authors named "Mirian C Janssen"

86Publications

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

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

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

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

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

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.

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.

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

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

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.

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.

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

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

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

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.

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