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6 research outputs found
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Author
A Arias
AJ Clark
+11 more
Cervera-Acedo Cristina
EH Rosenberg
EH Rosenberg
GS Salomons
JM van de Kamp
KM Cecil
LS Almeida
OT Betsalel
RE Stevenson
S Dreha-Kulaczewski
S Stockler
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
Author
AJ Clark
B Nota
+35 more
CL DesRoches
EH Rosenberg
Fuwei Luo
G Kuhlenbaumer
G Stelzer
GS Salomons
GS Salomons
H Kato
H Puusepp
JF Clark
Jiansheng Xie
Jingxin Yang
JM van de Kamp
JM van de Kamp
JT Brosnan
L Baroncelli
L Lion-Francois
LG Biesecker
M Jiddeke
M Joncquel-Chevalier Curt
M Wyss
MR Skelton
N Heussinger
O Ardon
OT Betsalel
OT Betsalel
P Garcia
Q Wang
Qin Wang
S Stockler
T Kleefstra
TJ deGrauw
Xingping Li
Y Yang
Yang Liu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
Author
A Schulze
A Schulze
+27 more
AH El-Gharbawy
Berge Minassian
Caro-Lyne Desroches
Christian R. Marshall
CR Sibley
D Cheillan
F Nasrallah
Gajja S. Salomons
Jaina Patel
JC Dohm
KS Viau
LS Almeida
M Wyss
MJ Clark
MS Comeaux
NM Verhoeven
OT Betsalel
Peixiang Wang
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Stockler-Ipsiroglu
S Stöckler
S Stöckler
Saadet Mercimek-Mahmutoglu
T Akiyama
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
Author
Akira Ganaha
AL Mehl
+53 more
AL Mehl
C Campbell
C Stinckens
CC Wu
CW Cremers
D Scott
DA Scott
GE Valvassori
GE Valvassori
GR Fraser
HC Davidson
HJ Park
JJ Yang
JW Shin
K Chen
K Kitamura
K Tsukamoto
Kenji Naritomi
Kumiko Yanagi
L Everett
L Fugazzola
M Bitner-Glindzicz
M Goldfeld
M Krawczak
Mikio Suzuki
MJ Levenson
MP Downs
NE Morton
O Nakagawa
OT Betsalel
P Arcand
P Dai
PD Phelps
QJ Wang
RK Jackler
S Dossena
S Huang
S Iwasaki
S Larriba
S Reyes
S Usami
Shin-ichi Usami
T Jinam
T Johnsen
T Okumura
Tadashi Kaname
Tetsuya Tono
U Napiontek
V Pendred
W Reardon
W Reardon
WM Belenky
XC Li
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Author
A Chaouch
A Fiser
+58 more
A Smith
AC Muntau
AJ Abrams
AJ Robinson
Ana Pop
Anibh Martin Das
Anna De Grassi
Areeg El-Gharbawy
B Nota
Benjamin Nota
Branka Polic
Britton Zuccarelli
C Ma
C Mühlhausen
CL Pierri
CM Marobbio
David Coman
E Pebay-Peyroula
EA Struys
Eduard A. Struys
Erwin E. W. Jansen
F Palmieri
F Palmieri
F Palmieri
F Palmieri
F Palmieri
F Palmieri
F Palmieri
F Palmieri
Ferdinando Palmieri
G Heijne von
Gajja S. Salomons
HE Shamseldin
Jean-Marc Nuoffer
JJ Ruprecht
Jose E. Abdenur
K Inoue
K Thompson
Luigi Palmieri
M Klingenberg
M Monné
Magnus Monné
Matilde R. Fernandez Ojeda
ME Mycielska
MH Read
Monique Williams
Natalie Weinhold
OT Betsalel
P Prasun
Pascal Lennertz
Pasquale Scarcia
René Santer
RS Kaplan
S Edvardson
Silvy J. M. van Dooren
V Iacobazzi
Vito Porcelli
Warsha A. Kanhai
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
Author
A Arias
A Humm
+76 more
A Newmeyer
A Schulze
A Schulze
A Schulze
A Trotier-Faurion
A Verma
C Carducci
C Fons
C Guimbal
CB Item
CD Fitch
D Cheillan
E Adriano
EA Struys
EH Rosenberg
F Nasrallah
G Lunardi
H Puusepp
H Yu
J Ilas
J. Daniel Sharer
JB Walker
JD Ndika
JM van de Kamp
JM van de Kamp
JM van de Kamp
JW Kuiper
K Spencer
KS Viau
L Mørkrid
L Perasso
LF Barnwell
LS Almeida
LS Almeida
M Pasquali
M Wyss
MG Alessandrì
Mirjam M.C. Wamelink
MJ Peral
MS Comeaux
Nicola Longo
NM Verhoeven
NM Verhoeven
O Ardon
O Braissant
O Shaham
OA Bodamer
OA Bodamer
Olaf Bodamer
OT Betsalel
P Garbati
R Battini
R Battini
R Ensenauer
RS Carling
S Boenzi
S Edvardson
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Mercimek-Mahmutoglu
S Nouioua
S Pajares
S Stockler-Ipsiroglu
S Stockler-Ipsiroglu
S Stockler-Ipsiroglu
S Young
Sarah Young
Silvia Tortorelli
T Wallimann
TM Cowan
V Valayannopoulos
W Amayreh
WG Miller
Y Kurosawa
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref