CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
7 research outputs found
Mapping the functional domains of TCblR/ CD320
Author
Amagasaki T.
Cannata J. J.
+11Â more
Edward V. Quadros
Esser V.
Hall C. A.
Jeffrey M. Sequeira
Jiang W.
Nourry C.
Ratschmann R.
Van Driel I. R.
Weissbach H.
Wenxia Jiang
Yasumi Nakayama
Publication venue
'FASEB'
Publication date
Field of study
No full text
Crossref
A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis
Author
A Gurgey
A Regec
+16Â more
C Prasad
F Namour
H Esmaili
J Haberle
L Qian
M Duval
M Schiff
MB Jordan
N Li
N Li
Ozlem Tezol
R Ratschmann
S Wu
Selma Unal
Y Kaikov
Yesim Oztas
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening
Author
Annesley
Beck
+38Â more
Beck
Bori Shushan
Chien
Civallero
Dajnoki
Dajnoki
David C. Kasper
De Jesus
Desnuelle
Duffey
Duffey
Duffey
Gelb
Grant
Hannes G. Müller
Harlan
Joseph L. Herman
Joseph M. Di Bussolo
Kasper
Katharina Ostermann
Khaliq
Kurt R. Herkner
la Marca
Legnini
Li
Li
Mechtler
Metz
Orsini
Rene Ratschmann
Shushan
Sista
Thomas F. Metz
Thomas P. Mechtler
Victor R. De Jesus
Wang
Wang
Zhang
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report
Author
A Regec
C Gherasim
+27Â more
C Prasad
D Watkins
F Arwert
F Kiefer
F Namour
Fangfang Cheng
Hailong He
J Häberle
J Johnston
LA Afman
M Nashabat
M Schiff
N Grarup
N Guex
N Hakami
N Li
N Li
PH Nissen
R Ratschmann
S Bartakke
S Khera
Shaoyan Hu
Shihong Zhan
TR enton
Xing Feng
YJ Trakadis
Åž Ãœnal
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Initial report from the Hunter Outcome Survey
Author
Aleck K.
Alm\ue3\u81ssy Z
+61Â more
Baldellou A
Beck M
Beck M
Berkau I
Bodamer O
Bonilla C
BRUNNER KRAINZ M
Burton B
Calvo Jp
Cicognani A
Clarke J
Clarke J
Dalmau J
DE AZUA B
DE MEIRLEIR L
DEL TORO M
Desveaux P
Domingo R
Fernhoff P
Frenking Gs
Gabrielli O
Gal\ue3\u81n E
Giugliani R
Giugliani R
Greenstein R
Guffon N
GUTI\uc3\u2030RREZ SOLANA Lg
Harmatz P
Herrero Mm
Horovitz D
Hung C
Jayakar P
Jones S
Kroepfl T
Lund Am
Malm G
Martin R
Melgar D
Moritz T
Muenzer J
Muenzer J
Munguira P
Muro Jm
Muschol N
Nilsson N
Novikov P
Papadopoulou D
Pineda M
Pintos G
Plecko B
Ramaswami U
Ratschmann R
Ricci R
Scarpa Maurizio
Thomas J
Ullrich K
Whitley C
Wraith E
Wraith Je
Zafeiriou D
Zeman J
Publication venue
Publication date
01/01/2008
Field of study
No full text
Archivio istituzionale della ricerca - Università di Padova
Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Author
A. Alfares
B. Echenne
+52Â more
B. Schrewe
B. Varet
C Aitelli
C Prasad
C Prasad
C. A. Rupar
C. P. Venditti
C. Prasad
CA Hall
D Watkins
D. S. Rosenblatt
D. Watkins
D. Zafeiriou
E. Glamuzina
EH Souied
F Namour
F Namour
F. Gonzalez-Fernandez
F. Scaglia
G. Touati
H Bibi
H. Bibi
HC Zeitlin
I. Manoli
J Häberle
J. Christodoulou
J. Mitchell
JB Arlet
JF Burman
JS Mayes
M Schiff
M. Buyukavci
M. C. Tchan
M. Nordwall
M. Schiff
MC Arrabal
N Li
N Li
N. Braverman
O. A. Bodamer
P. Connor
PH Nissen
PK Thomas
PK Thomas
R Carmel
R Ratschmann
S Gururangan
SR Rana
V Grech
WH Hitzig
Y Kaikov
Y. J. Trakadis
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Author
A Bhattacharjee
A McKenna
+47Â more
AM Quintana
American College of Medical Genetics Newborn Screening Expert Group.
Anthony Le
BL Cantarel
C Turgeon
CF Morel
CT Turgeon
Curt Scharfe
D Coelho
D Matern
D McHugh
DH Chace
DH Chace
E Carreiro-Lewandowski
Eula Fung
EV Quadros
Gang Peng
Gregory M. Enns
HC Yu
HL Rehm
Hongyu Zhao
JA Martin
JB Poulsen
Jonathan S. Berg
K Wang
KK Nicodemus
KK Ryckman
L Bassaganyas
L Breiman
L Feuchtbaum
Laura Jelliffe-Pawlowski
LL Jelliffe-Pawlowski
M Lek
Melissa M Minter Baerg
MI Lefterova
MJ Landrum
MV Hollegaard
Neeru Gandotra
Peidong Shen
R Ratschmann
RJ Currier
Ronald W. Davis
S Richards
SE Waisbren
Tina M. Cowan
TK Urv
VC Nitesh
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref