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8 research outputs found
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review
Author
A Agostini
A Simons
+37Â more
C Cazzorla
C De Laet
C Dionisi-Vici
C Eiser
D De Ridder
D Moher
DT Chuang
ER Muelly
G Gramer
GV Mazariegos
J Cohen
J Hatzmann
JA Durlak
JK Gentile
JR Landis
JS Cohen
JW Varni
L Krivitzky
M Dey
M Pohorecka
M Walterfang
MA Landolt
MAG Sprangers
Markus A Landolt
Martina Huemer
Matthias R Baumgartner
MH Beauchamp
Nina A Zeltner
P Upton
S Brusilow
SC GrĂĽnert
SL Weber
SS Sparrow
SY Fan
TF Eminoglu
W Packman
W Packman
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Get PDF
Crossref
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Author
A Maddalena
A McKenna
+54Â more
Adam Walter
AL Beaudet
B Tran
Byunggil Yoo
Carol J. Saunders
CJ Saunders
CS Richards
Darrell L. Dinwiddie
ED Green
Emily G. Farrow
ER Muelly
G Bernardi
G Cuny
GR Abecasis
Greyson Twist
H Lee
H Stranneheim
H Thorvaldsdottir
HL Rehm
HV Firth
Isabelle Thiffault
J O’Rawe
J Weiner
JJ McCarthy
Josh E. Petrikin
JR Priest
Julie A. Cakici
KA Strauss
Laurel K. Willig
Laurie D. Smith
Lisa Krivohlavek
LK Willig
M DePristo
Margaret Gibson
Mike Ruehle
Neil A. Miller
PD Stenson
S Kohler
S Richards
S Srivastava
Sarah E. Soden
SE Soden
Severine Catreux
Shane Corder
Stephen F. Kingsmore
Suzanne Herd
T Zemojtel
TD Wu
TJ Dixon-Salazar
TJ Hudson
TR Dreszer
Tyler Marrs
W McLaren
Y Yang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Get PDF
Crossref
Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease
Author
Alodaib A
Bhattacharya K
+23Â more
Chace DH
Chuang DT
Deng C
Fingerhut R
Frazier DM
Jain A
Jeong J-S
Kaur J
Lin N
Malvagia S
Matern D
Muelly ER
Naylor EW
Oglesbee D
Ombrone D
Puckett RL
Schadewaldt P
Schadewaldt P
Sinclair GB
Sowell J
Staufner C
Strauss KA
Stroek K
Publication venue
'FapUNIFESP (SciELO)'
Publication date
01/01/2021
Field of study
No full text
Crossref
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias
Author
A Sener
AE Harper
+45Â more
BA Reineking
Charles P. Venditti
D Cota
D Ney
ER Muelly
F Hörster
FL Shinnick
G Touati
GN Thompson
HG Parsons
HK Boldizsár
I Manoli
I Manoli
I Manoli
IL Baptista
Irini Manoli
Jennifer G. Myles
Jennifer L. Sloan
JH Walter
KM Camp
KM Camp
KM Camp
KP Block
L Hambraeus
LE Rosenberg
M Laplante
MA Cosson
ME Swendseid
MR Baumgartner
N Blau
NS Hauser
Oleg A. Shchelochkov
P Acosta
PS Kruszka
R Elango
RC Russell
S Eriksson
S Langer
S Yannicelli
SF Schakel
SM Matsui
SW Sauer
T Zwickler
WL Nyhan
WL Nyhan
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
Author
A Fabre
A Kowalik
+54Â more
A Servais
A Sitta
AM Sgaravatti
Anais Brassier
Aude Servais
B Hoffmann
BA Barshop
Benoit Theuil
Bernadette Chadefaux-Vekemans
C Funchal
C Funchal
C Hilliges
C Roux le
CA Ribeiro
Chris Ottolenghi
CL Clow
Claire Belloche
Clément Pontoizeau
CĂ©lina Roda
DH Morton
E Simon
E Simon
ER Muelly
Fabrice Lesage
Florence Habarou
G Gramer
GV Mazariegos
I Ibarra-González
Jean-Baptiste Arnoux
Jean-Meidi Alili
JM Strand
K Aoki
K Flores
KA Soltys
KA Strauss
KA Strauss
Laurent Dupic
M Walterfang
M Yoshino
M Yudkoff
Manuella Bayart
Marie-Caroline Husson
Marie-Thérèse Abi-Wardé
ML Couce
Murielle Assoun
Pascale de Lonlay
S Herber
Sandrine Dubois
SL Weber
T Yasui
Valérie Barbier
Virginie Leboeuf
W Packman
W Packman
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Interactions in the Metabolism of Glutamate and the Branched-Chain Amino Acids and Ketoacids in the CNS
Author
A Boneh
A Evangeliou
+93Â more
A Martinez-Hernandez
AB Walls
AE Harper
AJL Cooper
AJL Cooper
AL Prensky
B Hamprecht
BK Siesjö
BS Meldrum
C Cangiano
C Cardona
DL Rothman
DR Curtis
E Kvamme
E Lieth
EA Newsholme
ER Chaplin
ER Muelly
F Li
G Dam
GA Dienel
GC Petzold
GE Shambaugh
GE Shambaugh III
GJ Schwartz
HB Burch
HR Zielke
HR Zielke
HR Zielke
I Llorente-Folch
J Albrecht
J Bonfils
J Davoodi
J Drgonova
J Hull
J Shen
JH James
JJ Riviello Jr
JL Jewell
JT Cole
K Brand
K Kanamori
KL Manchester
LC Burrage
LK Bak
LK Bak
LL Gluud
M Bixel
M Erecinska
M Erecińska
M Jenstad
M Mac
M Yudkoff
M Yudkoff
M Yudkoff
M Yudkoff
MA GarcĂa-Espinosa
Marc Yudkoff
MB Robinson
MC McKenna
MC McKenna
MC McKenna
MD Norenberg
MG Bixel
MW Haymond
N Auestad
N Brookes
N Brookes
N Westergaard
NJ Abbott
P Felig
PR Dodd
QR Smith
R MurĂn
RA Harris
RG Shulman
S Berl
S Broer
S Choi
S Hädel
SM Hutson
SM Hutson
SM Hutson
SM Hutson
T Hayashi
TR Hall
U Sonnewald
V Grill
W Jan
WH Oldendorf
WJ Lee
WJ Zinnanti
Y Daikhin
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Behavioral Responses in Rats Submitted to Chronic Administration of Branched-Chain Amino Acids
Author
A Banjac
A Gardner
+77Â more
A Kumar
AG Barschak
AL Prensky
AL Prensky
AM Sgaravatti
C Mescka
C Pilla
CA Ribeiro
CO Arent
D Tribble
DA Baker
DJ Danner
DL Lafleur
DT Chuang
E Gere-Paszti
E Treacy
EJ Nestler
ER Muelly
F Cavalleri
FR Ferreira
FU Fontella
G Lucca
G Scaini
G Scaini
G Scaini
GD Gamaro
GZ RĂ©us
GZ RĂ©us
HR Zielke
I Smaga
JM Land
JS Ha
KA Strauss
KR Gilbert
L Tuon
M Berk
M Maes
M Maes
M Maes
M Maes
M Wajner
M Wajner
M Walterfang
M Yudkoff
MJ Forlenza
ML Mokoena
N DellaGioia
N Dimopoulos
P AraĂşjo
P Jouvet
P Willner
P Willner
PB Di-Pietro
PR Dodd
PV MagalhĂŁes
R Bridi
R Bridi
R Bridi
R Janáky
R Venè
RD Porsolt
RG Tavares
RJ Katz
RJ Katz
RK Howell
S Schönberger
SD Khanzode
SH Jou
SM Hutson
SS Iyer
SW Leslie
T Taketomi
V Krishnan
V Varga
VM Linck
WJ Zinnanti
Y Yagasaki
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Serum Markers of Neurodegeneration in Maple Syrup Urine Disease
Author
A Cellerino
A Ciammola
+122Â more
A Contestabile
A Gowran
A Kamei
A Minarowska
A Silva
AC Vana
AG Barschak
AG Barschak
AL Fu
AM Sgaravatti
AU Amaral
B Aisa
B Connor
BS Diniz
C Cunha
C Laske
C Roux le
C Sandi
C Zuccato
CA Ribeiro
Carolina F. Moura de Souza
CG Victora
CP Mescka
CP Mescka
CP Mescka
D Klee
D Moechars
DC German
DT Chuang
DT Yew
DW Howells
DY Mackenzie
E Liaudet-Coopman
E Simon
EJ Huang
EL Jackson
Emilio L. Streck
ER Muelly
FS Walsh
FU Fontella
G Liu
G Sberna
G Scaini
G Scaini
G Scaini
G Scaini
G Scaini
Giselli Scaini
Gustavo C. Ferreira
H JG
H Strekalova
HS Phillips
I Tasset
Ida Vanessa D. Schwartz
J Platenik
JC Murtie
JH Kim
Joao Seda Neto
K Kagedal
K Roberg
KS Walsh
L Emert-Sedlak
L Rosa
L Stoenica
L Todaro
LH Brennaman
LM Bierer
LP Deiss
M Agostini
M Bibel
M Blurton-Jones
M Carecchio
M Fusek
M Heinrich
M Hetman
M Narisawa-Saito
M Wajner
MA Bruno
MG Murer
MH Harirchian
MH Joseph
MS Wisniewski
N Baumann
NH Woo
O Bukalo
O Wirths
OS Jorgensen
P Araujo
P Doherty
P Jouvet
P Jouvet
P Komulainen
P Scalzo
Patricia F. Schuk
PS Walmod
R Bridi
R Bridi
RK Howell
RM Holsinger
RT Dean
S Capsoni
S Capsoni
S Covaceuszach
S Erdmann
S Kim
S Mori
S Schonberger
SE Snyderman
SJ Allen
SJ Teipel
SV Yelamanchili
Tatiana Amorin
Tássia Tonon
U Schuch
V Zuzarte-Luis
VN Talesa
VP Chekhonin
W GS
W Packman
WJ Tyler
WJ Tyler
WJ Zinnanti
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref