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1 .
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD
저자
by
J. H. van der Kolk
;
Jörgen Bierau
;
C.M. Westermann
;
L. Dorland
;
O. P. van Diggelen
, et al.
소스
Molecular genetics and metabolism, 104(3), 273-278. Academic Press Inc.
Molecular Genetics and Metabolism, 104(3), 273-278. Academic Press
Molecular Genetics and Metabolism, 104(3), 273-278. Academic Press Inc.
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7 .
Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten
저자
by
Dicky J. J. Halley
;
G.M.S. Mancini
;
Hennie T. Brüggenwirth
;
G.C. Schoonderwoerd
;
J. G. M. Huijmans
, et al.
소스
Tijdschrift voor Kindergeneeskunde
. 78:49-56
Scopus
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7 .
Muscular glycogen storage diseases without increased glycogen content on histoplathological examination
저자
by
O. P. van Diggelen
;
den Wilfred Dunnen
;
Marieke Hoeksma
;
van FrancJan Spronsen
;
Klaziena Niezen-Koning
, et al.
소스
Molecular Genetics and Metabolism, 91(4), 370-373. Academic Press
Molecular Genetics and Metabolism, 91(4), 370-373. ACADEMIC PRESS INC ELSEVIER SCIENCE
Full Text (ScienceDirect)
Web of Science
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7 .
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
저자
by
H. Zweers van Essen
;
Saskia B. Wortmann
;
Eva Morava
;
R. Liebrand van Sambeek
;
O. P. van Diggelen
, et al.
소스
Journal of Inherited Metabolic Disease, 28, 5, pp. 703-6
Journal of Inherited Metabolic Disease, 28, 703-6
Journal of Inherited Metabolic Disease, 28(5), 703-706. Springer Netherlands
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7 .
A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
저자
by
Jana Ledvinová
;
Kees Schoonderwoerd
;
René Santer
;
Y. V. Voznyi
;
M. Zschiesche
, et al.
소스
Journal of Inherited Metabolic Disease, 28, 733-741. Springer Netherlands
Web of Science
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7 .
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8
저자
by
Jérôme Ausseil
;
Alexey V. Pshezhetsky
;
C Darmond-Zwaig
;
O. P. van Diggelen
;
Thomas J. Hudson
, et al.
소스
Journal of Medical Genetics, 41, 941-944. BMJ Publishing Group
Journal of medical genetics, 41(12), 941-945. BMJ Publishing Group
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Open Access (OpenAIRE)
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7 .
Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K
저자
by
O. P. van Diggelen
;
Eugen Mengel
;
B Kustermann-Kuhn
;
M. Zschiesche
;
A Rolfs
, et al.
소스
Neuropediatrics
. 34:301-306
Web of Science
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7 .
Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay
저자
by
J. L. M. Keulemans
;
I. Sinigerska
;
J. G. M. Huijmans
;
W. J. Kleijer
;
Victor H. Garritsen
, et al.
소스
Prenatal Diagnosis, 22, 1016-1021. John Wiley & Sons Ltd.
Web of Science
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7 .
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
저자
by
J. L. M. Keulemans
;
Y. V. Voznyi
;
O. P. van Diggelen
.
소스
Journal of Inherited Metabolic Disease
. 24:675-680
Web of Science
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5 .
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
저자
by
Ruud Berger
;
J. E. A. R. De Schrijver
;
J. van Hattum
;
P. G. J. Nikkels
;
O. P. van Diggelen
, et al.
소스
Virchows Archiv. An International Journal of Pathology, 437, 101-105. Springer-Verlag
Virchows Archiv, 437(1), 101-105. Springer Verlag
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