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4 research outputs found
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Author
Kievit Anneke
Langendonk Janneke
+7Ā more
Marchal JP
Nijmeijer SCM
Roosing S
Stepien KM
van den Born LI
Wagenmakers Margreet
Wijburg FA
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2019
Field of study
Get PDF
EUR Research Repository
Direct to consumer genetic testing in Denmarkāpublic knowledge, use, and attitudes
Author
C Critchley
DJ Kaufman
+26Ā more
E Van Steijvoort
EW Clayton
I Hoxhaj
J Charbonneau
JE Ostergren
JJ Shiroff
JS Roberts
KCA Holtkamp
KFJ Stewart
L Henneman
LM Petersen
M Millward
M Plƶthner
M Schaper
MBP Dinulos
MC Jonas
ME Ragnar
NJ Brandt
P Borry
P Borry
R Horton
S Tandy-Connor
SA Metcalfe
SCM Nijmeijer
SP McGrath
V Mavroidopoulou
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening
Author
A Matar
AD Archibald
+30Ā more
B Heron
BJ McClaren
D Chokoshvili
D Chokoshvili
DB Bailey Jr.
FA Poppelaars
FK Boardman
FK Boardman
FK Boardman
H Etchegary
HH Ropers
IB Mathijssen
K Sankaranarayanan
KC Holtkamp
KCA Holtkamp
L Henneman
L Ioannou
M Ekstrand Ragnar
M Plantinga
MJ Valstar
N Pereira
R Ong
S Grant
S Janssens
S Kalkan Ucar
S Klugman
S van der Hout
SCM Nijmeijer
T Conijn
TM Marteau
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Development of cyclodextrin-based extract of Lotus corniculatus as a potential substrate reduction therapy in mucopolysaccharidoses type III
Author
A Arfi
A Fedele
+54Ā more
A Kloska
A Rawson
AC Diamanti
AK Das
B FumiÄ
B FumiÄ
Barbara FumiÄ
C Nicolle
CL Marley
D Pingret
DA Pereira
E Pinho
E Pinho
F Chemat
FA Girardi
FJ Escaray
FL Mota
G Kleinschmidt
HJ Zhang
I Mourtzinos
I Parmar
J Koelzer
J Reynaud
J Wang
JB Dalmarco
JR Moyano-Mendez
L Cornara
L Gaffke
L Sarelli
LM Martin
M Jug
M Malinowska
M Moskot
M Mura
M PĆ©rez-Abril
M Yolmeh
Marijana Zovko KonÄiÄ
Mario Jug
MF Coutinho
MZ KonÄiÄ
O Ceylan
P Jansook
P Skenderidis
RW Farndale
S Kaiser
S Kowalski
S Kumazawa
S Rafiq
S Trudel
S Vuckovic
SCM Nijmeijer
V Suvarna
VL Singleton
Y-J Kim
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref