4 research outputs found
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
- Author
- A. J. J. Reuser
- A. T. van der Ploeg
- AE Slonim
- AG Engel
- AG Engel
- AL Montalvo
- AT Ploeg van der
- C Bersanini
- C. I. van Capelle
- E. Mengel
- EA Beenakker
- H. Michelakakis
- HM Hout van den
- J. C. de Jongste
- J. C. van der Meijden
- J. Jaeken
- J. M. P. van den Hout
- JC Pompe
- JH Wokke
- LP Winkel
- M Fanin
- M Kroos
- M Roberts
- M Zatz
- M. A. Kroos
- M. A. Willemsen
- M. Baethmann
- M. E. Rubio-Gozalbo
- MA Kroos
- Medical Research Council
- ML Hagemans
- MM Hermans
- MM Hermans
- MM Tonini
- MP Korpela
- MR Miller
- N Pellegrini
- NA Beek Van der
- NA Beek van der
- NA Beek van der
- OP Diggelen van
- OP Diggelen van
- P Laforet
- PH Quanjer
- PS Kishnani
- R Hirschhorn
- R. H. Lachmann
- RJ Ploeg van der
- RY Carlier
- S Ravaglia
- SC Wens
- T. G. J. Derks
- T. Voit
- U Mellies
- U Mellies
- W Muller-Felber
- WB Groen
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
- Author
- A Mignarri
- A Raas-Rothschild
- A Zeharia
- BT Poll-The
- C Sevin
- CC Chang
- CC Chang
- CC Chang
- DI Crane
- EM Scott
- FCC Klouwer
- H Rosewich
- HM Michelakakis
- HR Waterham
- J Alshenaifi
- J Berger
- J Gootjes
- J Gootjes
- J Majewski
- K Berendse
- K Okumoto
- KA Sacksteder
- KE Bove
- L Regal
- MS Ebberink
- MS Ebberink
- MS Ebberink
- NE Braverman
- NE Braverman
- PG Barth
- RJ Wanders
- RJ Wanders
- RJ Wanders
- RJ Wanders
- RL Farr
- S Levesque
- S Matsui
- S Steinberg
- SJ Steinberg
- WY Yik
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Glomerular Hyperfiltration and Proteinuria in Transfusion-Independent Patients with β-Thalassemia Intermedia
- Author
- Alfrey AC
- Ali Abdulnabi Mohamed
- Ali D
- Ali T. Taher
- Camaschella C
- Cappellini MD
- Davis LE
- Fadel Jaber
- Fibach E
- Ficociello LH
- Fuad N. Ziyadeh
- Guasch A
- Haymann JP
- Inoue T
- Kassab-Chekir A
- Khaled M. Musallam
- King SM
- Kokoszko A
- Koliakos G
- Lafferty HM
- Landing BH
- Levey AS
- Lindeman RD
- Michelakakis H
- Nagababu E
- Naji S. Mallat
- Nangaku M
- Ponticelli C
- Quinn CT
- Rees DC
- Rowe JW
- Sadeghi-Bojd S
- Samir Mallat
- Schein A
- Schwartz GJ
- Schwartz GJ
- Shah SV
- Smolkin V
- St Pierre TG
- Sumboonnanonda A
- Suzanne Koussa
- Taher A
- Taher AT
- Taher AT
- Taher AT
- Tavazzi D
- Weatherall DJ
- Zager RA
- Zager RA
- Zhou XJ
- Publication venue
- 'S. Karger AG'
- Publication date
- Field of study
Human Disorders of Peroxisome Biogenesis: Zellweger Spectrum and Rhizomelic Chondrodysplasia Punctata
- Author
- A Mignarri
- A Poulos
- A Raas-Rothschild
- A Zeharia
- AB Moser
- AC Muntau
- AE Moser
- AJ Barkovich
- AJ Khanna
- AK Das
- AL White
- AM Bams-Mengerink
- AM Motley
- AM Paker
- AS Wierzbicki
- B Distel
- BK Zolman
- BS Acharya
- BT Poll-The
- BV Geisbrecht
- C Duve De
- C Krause
- C Sevin
- C Viseskul
- C Walter
- CC Chang
- CC Muller
- CS Collins
- CS Woerden van
- D Corzo
- D Tran
- DM Brink van den
- DM Danks
- DW Smith
- E Passarge
- EF Gilbert
- EJ Baldwin
- EM Sokal
- F Roels
- G Dodt
- G Oswald
- GI Sugarman
- GN Wilson
- H Otera
- H Rosewich
- H Wei
- H Zellweger
- HJ McMillan
- HM Michelakakis
- HR Waterham
- HS Heymans
- HT El-Bassyouni
- IC Huffnagel
- J Gootjes
- J Lopez-Erauskin
- J Majewski
- J Opitz
- JM Powers
- K Berendse
- K Maeda
- KD Setchell
- KE Bove
- KS Kulkarni
- KW Gilchrist
- L Maldergem Van
- L Regal
- M Fransen
- M Fransen
- M Iwasa
- M MacCollin
- M Nordgren
- M Schrader
- MA Horn
- MA Maxwell
- MS Ebberink
- MS Ebberink
- MS Ebberink
- MT Noguer
- N Braverman
- N Braverman
- N Braverman
- N Braverman
- N Braverman
- N Shimozawa
- NS Datta
- P Aubourg
- P Bowen
- P Brites
- P Cacciagli
- PG Barth
- PJ Zwijnenburg
- PK Dranchak
- PL Wood
- R Zhang
- RI Kelley
- S Ferdinandusse
- S Ferdinandusse
- S Ferdinandusse
- S Fourcade
- S Goldfischer
- S Levesque
- S Steinberg
- SB Pierce
- SE Ratzel
- SJ Steinberg
- SJ Steinberg
- SM Cohen
- T Osumi
- TR Wells
- TW Yu
- W Demyer
- WB Rizzo
- WC Hubbard
- WY Yik
- Y Fujiki
- Y Sun
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study