Gabor E. Linthorst
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 62 publications
Weight loss as a presenting clinical feature of malignancy
Journal: Nederlands tijdschrift voor geneeskunde
Published: January 12, 2023
Case reports of deceased patients
Journal: Nederlands tijdschrift voor geneeskunde
Published: August 04, 2021
Is faster diagnosis of rare diseases feasible?
Journal: Nederlands tijdschrift voor geneeskunde
Published: May 13, 2020
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Journal: Brain : a journal of neurology
Published: April 25, 2020
Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations
Journal: Nederlands tijdschrift voor geneeskunde
Published: May 24, 2019
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
Journal: The Journal of clinical endocrinology and metabolism
Published: June 14, 2018
Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels.
Journal: The Netherlands journal of medicine
Published: May 31, 2018
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Journal: Kidney international
Published: September 13, 2016
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Journal: Journal of the American Society of Nephrology : JASN
Published: September 10, 2016
Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.
Journal: Nature reviews. Endocrinology
Published: June 18, 2016
Hearing loss in children with Fabry disease.
Journal: Journal of inherited metabolic disease
Published: June 02, 2016
Last Updated: 09/26/2026