S M I Goorden Selected Research

Visceral myopathy familial external ophthalmoplegia

3/2022

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.

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S M I Goorden Research Topics

Disease

2	Mitochondrial Diseases (Mitochondrial Disease) 03/2022 - 01/2018
1	Visceral myopathy familial external ophthalmoplegia 03/2022
1	Lipidoses 01/2018
1	Intellectual Disability (Idiocy) 01/2018
1	Metabolic Diseases (Metabolic Disease) 01/2018
1	Microcephaly 01/2018
1	Neuroblastoma 01/2018
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2018
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2018
1	Seizures (Absence Seizure) 01/2018
1	Sphingolipidoses (Sphingolipidosis) 01/2018
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2018
1	Type A Niemann-Pick Disease 01/2018
1	Fabry Disease (Fabry's Disease) 01/2018
1	Gaucher Disease (Gaucher's Disease) 01/2018
1	Ichthyosis (Xeroderma) 01/2018

Drug/Important Bio-Agent (IBA)

2	Biomarkers (Surrogate Marker)IBA 01/2018 - 01/2018
2	SphingolipidsIBA 01/2018 - 01/2018
1	DeoxyuridineIBA 03/2022
1	ThymidineIBA 03/2022
1	Thymidine PhosphorylaseIBA 03/2022
1	LipidsIBA 01/2018
1	Serine (L-Serine)FDA Link 01/2018
1	3-methoxytyramine (methoxytyramine)IBA 01/2018
1	globotriaosyl lysosphingolipidIBA 01/2018
1	chitotriosidaseIBA 01/2018
1	Alanine (L-Alanine)FDA Link 01/2018
1	CatecholaminesIBA 01/2018

Therapy/Procedure

1	Hematopoietic Stem Cell Transplantation 03/2022