Otto P. van Diggelen

Author

Also Known As

Otto P Van Diggelen, Otto P van Diggelen, Otto P. Diggelen, Otto P. VAN DIGGELEN, Otto P. Van Diggelen, Otto P. van Diggelen, Pia Lohse

Publications

3.2K

Citations

H-Index

Concepts

All Affiliations

Erasmus University Rotterdam Erasmus MC Institute of Psychiatry and Neurology Albert Einstein College of Medicine Radboud University Medical Center

About

Otto P. van Diggelen is an author at Erasmus University Rotterdam specializing in medicine, pathology, and lysosomal storage disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	24	929
2	Biochemistry	4	4	91
3	Natural Sciences	3	3	76
4	Engineering	1	1	11
5	Biology	1	1	27

Otto P. van Diggelen

Publications

2.4K

Citations

H-Index

Page 1

	Year	Citations
Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk Johanna M. P. van den Hout, Joep H. J. Kamphoven, Léon P. F. Winkel, PEDIATRICS	2004	348
Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up Léon P. F. Winkel, Johanna M. P. van den Hout, Joep H. J. Kamphoven, Annals of Neurology	2004	230
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations M. J. Valstar, Sanne Neijs, Hennie T. Brüggenwirth, Annals of Neurology	2010	185
Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease Otto P. van Diggelen, Stéphane Thobois, Caroline Tilikete, Annals of Neurology	2001	117
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons Laura Ahtiainen, Otto P. van Diggelen, Anu Jalanko, The Journal of Comparative Neurology	2002	100
Diagnosing mucopolysaccharidosis IVA Timothy C. Wood, Katie Harvey, Michael Beck, Journal of Inherited Metabolic Disease	2013	98
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, The American Journal of Human Genetics Sanfilippo C SyndromeAutoimmune DiseaseGenetic DisorderPathogenesisPathology	2006	95
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging Outi Kopra, Jouni Vesa, Carina von Schantz, Human Molecular Genetics PathologyEpendymaExperimental NeuropathologyNeurologyNeuropathology	2004	86
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes Toshika Okumiya, J. L. M. Keulemans, Marian A. Kroos, Molecular Genetics and Metabolism Laboratory HematologyGranulocyteMedicineBioanalysisImmunology	2005	78
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571 + 1G >>> A) leading to excision of exon 3 Tony Frugier, Nadia L. Mitchell, Imke Tammen, Neurobiology of Disease Nucleotide SubstitutionPathologyBorderdale SheepChoroid PlexusMedicine	2007	74

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