6 research outputs found
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
- Author
- A Dahlqvist
- AI Coelho
- AM Bosch
- C Item
- Carlos E. Steiner
- Carolina F. M. Souza
- CS Gubbels
- D Nelson
- Daniel F. Garcia
- DD Waggoner
- DJ Timson
- DR Carvalho-Silva
- FR Calderon
- FR Kaufman
- Gilda Porta
- Greice A. Molfetta
- GT Berry
- H Henderson
- H Hirokawa
- HM Holden
- HM Kalckar
- IA Adzhubei
- J Ashino
- J Lukac-Bajalo
- J Marvit
- JB Hennermann
- JB Holton
- JK Reichardt
- JK Reichardt
- JK Reichardt
- JK Reichardt
- JL Fridovich-Keil
- José S. Camelo
- JS Camelo Jr
- K Lai
- K Lai
- KM Antshel
- KP Coss
- KR Ridel
- L Gort
- L Kozak
- L Kozak
- L Shih
- L Tyfield
- LA Tyfield
- LF Leloir
- LJ Elsas
- LJ Elsas
- Marlene Turcato
- MG Reese
- N Manga
- N Potter
- ND Leslie
- P Kumar
- S Greber-Platzer
- S Schweitzer
- SM Callegari-Jacques
- Wilson A. Silva
- YS Shin
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Get PDFMutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textA De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textThiopurine S-Methyltransferase Pharmacogenetics: Genotype to Phenotype Correlation in the Slovenian Population
- Author
- Publication venue
- 'S. Karger AG'
- Publication date
- Field of study
No full textSweet and sour: an update on classic galactosemia
- Author
- A Facchiano
- A Marabotti
- A Ohlsson
- A Ohlsson
- A Robertson
- AE Carney
- AI Coelho
- AI Coelho
- AI Coelho
- AI Coelho
- AI Coelho
- AL Belman
- AM Bosch
- AM Bosch
- AM Bosch
- AM Bosch
- AM Bosch
- Ana I. Coelho
- Anonymous
- B Erven van
- B Hoffmann
- B Panis
- B Panis
- B Panis
- B Panis
- C Crews
- C Cuthbert
- C Haberland
- C Jakobs
- C Ning
- C Ning
- C Wadelius
- C Yager
- C Zekanowski
- CM Doyle
- CS Gubbels
- CS Gubbels
- CS Gubbels
- CS Gubbels
- CT Yager
- DD Waggoner
- DJ Coman
- DJ Timson
- DT Ng
- E Beutler
- EA De-Souza
- F Kaufman
- FR Calderon
- FR Kaufman
- FR Kaufman
- FR Manis
- G Liu
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- H Douglas
- H Hirokawa
- H Kim
- H Levy
- HC Douglas
- I Timmers
- I Timmers
- I Timmers
- IS Wood
- Isabel Rivera
- J Ashino
- J Charlwood
- J Chen
- J Chen
- J Decombaz
- J Hennermann
- J Hughes
- J Jaeken
- J Lu
- J Lukac-Bajalo
- JB Spencer
- JB Thoden
- JE Wedekind
- JE Wedekind
- JL Fridovich-Keil
- JL Fridovich-Keil
- JL Fridovich-Keil
- JL Fridovich-Keil
- JM Daenzer
- JM Flanagan
- JM Flanagan
- JO Mumma
- João B. Vicente
- JP Shield
- JTR Clarke
- K Gross
- K Krabbi
- K Lai
- K Lai
- K Lai
- K Lai
- K Lai
- K Lai
- K Riehman
- KC Gross
- KJ Wierenga
- KL Ross
- KM Antshel
- KP Coss
- KP Coss
- KP Coss
- KW Lai
- L Crome
- L Kozak
- L Kozák
- L Liu
- L Sturiale
- L Wells
- L-J Wong
- L-J Wong
- LA Batey
- LJ Elsas
- LJ Elsas II
- LJ Elsas II
- M Bhat
- M Lewis
- M Lindhout
- M Palmieri
- M Suzuki
- M Tang
- M Tang
- M Trbušek
- M. Estela Rubio-Gozalbo
- MD Nelson
- ME Rubio-Gozalbo
- ME Rubio-Gozalbo
- ME Rubio-Gozalbo
- N Karadag
- N Manga
- ND Leslie
- ND Leslie
- ND Leslie
- NL Potter
- NL Potter
- NL Potter
- P Briones
- P Schadewaldt
- P Schadewaldt
- P Schadewaldt
- PJ Bhat
- PJ Lebea
- PP Jumbo-Lucioni
- PP Jumbo-Lucioni
- R Gitzelmann
- R Gitzelmann
- R Quan-Ma
- R Singh
- RD Sanders
- RF Kushner
- RJ Pollitt
- S Calcar Van
- S Calcar Van
- S Geeganage
- S Geeganage
- S Greber-Platzer
- S Jongh De
- S Odejinmi
- S Samuels
- S Schweitzer
- SD Langley
- SE Waisbren
- SE Waisbren
- SE Waisbren
- SL Wehrli
- SS Gropper
- T Forges
- T McCorvie
- T Podskarbi
- T Slepak
- TA Tedesco
- TF Roe
- TJ McCorvie
- TK Koch
- TL Field
- TWR Hansen
- UG Jensen
- V Kimonis
- V Shah
- W Lo
- WG Ng
- Y Liu
- ZF Zhang
- ZJ Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/05/2017
- Field of study
No full textSweet and sour: an update on classic galactosemia
- Author
- A Facchiano
- A Marabotti
- A Ohlsson
- A Ohlsson
- A Robertson
- AE Carney
- AI Coelho
- AI Coelho
- AI Coelho
- AI Coelho
- AI Coelho
- AL Belman
- AM Bosch
- AM Bosch
- AM Bosch
- AM Bosch
- AM Bosch
- Ana I. Coelho
- Anonymous
- B Erven van
- B Hoffmann
- B Panis
- B Panis
- B Panis
- B Panis
- C Crews
- C Cuthbert
- C Haberland
- C Jakobs
- C Ning
- C Ning
- C Wadelius
- C Yager
- C Zekanowski
- CM Doyle
- CS Gubbels
- CS Gubbels
- CS Gubbels
- CS Gubbels
- CT Yager
- DD Waggoner
- DJ Coman
- DJ Timson
- DT Ng
- E Beutler
- EA De-Souza
- F Kaufman
- FR Calderon
- FR Kaufman
- FR Kaufman
- FR Manis
- G Liu
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- GT Berry
- H Douglas
- H Hirokawa
- H Kim
- H Levy
- HC Douglas
- I Timmers
- I Timmers
- I Timmers
- IS Wood
- Isabel Rivera
- J Ashino
- J Charlwood
- J Chen
- J Chen
- J Decombaz
- J Hennermann
- J Hughes
- J Jaeken
- J Lu
- J Lukac-Bajalo
- JB Spencer
- JB Thoden
- JE Wedekind
- JE Wedekind
- JL Fridovich-Keil
- JL Fridovich-Keil
- JL Fridovich-Keil
- JL Fridovich-Keil
- JM Daenzer
- JM Flanagan
- JM Flanagan
- JO Mumma
- João B. Vicente
- JP Shield
- JTR Clarke
- K Gross
- K Krabbi
- K Lai
- K Lai
- K Lai
- K Lai
- K Lai
- K Lai
- K Riehman
- KC Gross
- KJ Wierenga
- KL Ross
- KM Antshel
- KP Coss
- KP Coss
- KP Coss
- KW Lai
- L Crome
- L Kozak
- L Kozák
- L Liu
- L Sturiale
- L Wells
- L-J Wong
- L-J Wong
- LA Batey
- LJ Elsas
- LJ Elsas II
- LJ Elsas II
- M Bhat
- M Lewis
- M Lindhout
- M Palmieri
- M Suzuki
- M Tang
- M Tang
- M Trbušek
- M. Estela Rubio-Gozalbo
- MD Nelson
- ME Rubio-Gozalbo
- ME Rubio-Gozalbo
- ME Rubio-Gozalbo
- N Karadag
- N Manga
- ND Leslie
- ND Leslie
- ND Leslie
- NL Potter
- NL Potter
- NL Potter
- P Briones
- P Schadewaldt
- P Schadewaldt
- P Schadewaldt
- PJ Bhat
- PJ Lebea
- PP Jumbo-Lucioni
- PP Jumbo-Lucioni
- R Gitzelmann
- R Gitzelmann
- R Quan-Ma
- R Singh
- RD Sanders
- RF Kushner
- RJ Pollitt
- S Calcar Van
- S Calcar Van
- S Geeganage
- S Geeganage
- S Greber-Platzer
- S Jongh De
- S Odejinmi
- S Samuels
- S Schweitzer
- SD Langley
- SE Waisbren
- SE Waisbren
- SE Waisbren
- SL Wehrli
- SS Gropper
- T Forges
- T McCorvie
- T Podskarbi
- T Slepak
- TA Tedesco
- TF Roe
- TJ McCorvie
- TK Koch
- TL Field
- TWR Hansen
- UG Jensen
- V Kimonis
- V Shah
- W Lo
- WG Ng
- Y Liu
- ZF Zhang
- ZJ Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full text
