7 research outputs found
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
- Author
- A Chilosi
- A Verma
- C Stromberger
- CB Item
- CI Nabuurs
- Claudia Casalini
- D Wechsler
- D Wechsler
- Giovanni Cioni
- JD Ndika
- L Baroncelli
- M Wyss
- M Wyss
- M. Grazia Alessandrì
- Manuela Casarano
- MC Bianchi
- MC Bianchi
- Michela Tosetti
- R Battini
- R Battini
- R Battini
- Roberta Battini
- S Edvardson
- S Stockler
- S Stockler-Ipsiroglu
- SJ Ellery
- SJ Ellery
- SW Provencer
- T Schirmer
- Y Kurosawa
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textDiagnostic methods and recommendations for the cerebral creatine deficiency syndromes
- Author
- A Arias
- A Chilosi
- A Chilosi
- A Newmeyer
- A Newmeyer
- A Schulze
- A Schulze
- A Schulze
- AJ Clark
- C Fons
- CB Item
- D Cheillan
- EH Rosenberg
- GM Mancini
- GS Salomons
- GS Salomons
- H Caldeira AraĂşjo
- H Kato
- H Puusepp
- IA Anselm
- JD Ndika
- JM van de Kamp
- JM van de Kamp
- Joseph F. Clark
- Kim M. Cecil
- KM Cecil
- KM Cecil
- KS Viau
- KT Verbruggen
- L Lion-François
- LS Almeida
- M Dunbar
- M Elsabbagh
- M Wyss
- MA Mencarelli
- MC Bianchi
- MS Comeaux
- NZ Khan
- OT Betsalel
- OT Betsalel
- P PĂło-ArgĂĽelles
- R Battini
- R Battini
- R Battini
- RH Andres
- S Edvardson
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Stockler
- S Stockler-Ipsiroglu
- S Stöckler
- S Stöckler
- S Stöckler
- SR Nash
- SU Dhar
- TJ deGrauw
- TJ deGrauw
- UF Engelke
- Y Kurosawa
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textCreatine as Biomarker
- Author
- A Arias
- A Arias
- A Arias
- A Arias-Dimas
- A Hasim
- A Torremans
- AF Perna
- AL Gropman
- AP Halestrap
- B Kloeckener-Gruissem
- B Kuhlback
- B Marescau
- B Marescau
- B Marescau
- BD Cohen
- C Dionisi Vici
- C Valongo
- CB Item
- CG Choi
- CR Alves
- D Haas
- E BĂ©ard
- E Roze
- F Andrade
- F Andrade
- FJ Spronsen van
- GS Salomons
- I Sipilä
- J Abplanalp
- J Campistol
- J Takanashi
- J Verhelst
- JD Ndika
- JM Baruth
- JM Kamp van de
- JM Kamp van de
- JM Kamp van de
- JS Choi
- K Figura Von
- K Heinänen
- K Heinänen
- K Nänto-Salonen
- K Vandekerckhove
- KM Selnaes
- LK Schnackenberg
- LS Almeida
- LS Almeida
- M Joncquel-Chevalier Curt
- MC Bianchi
- MF Beal
- MJ Peral
- Nadia Bayou
- NM Corrigan
- NM Verhoeven
- O Shaham
- OA Bodamer
- P Szatmari
- PD Balsom
- PJ Höglund
- RA Kley
- S Boenzi
- S Boenzi
- S Boenzi
- S Cognat
- S Harvey
- S Mavel
- S Natelson
- S Pajares
- S Stöckler
- T Wallimann
- TA Clayton
- TA Fedele
- V Leuzzi
- V Valayannopoulos
- Y Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textCreatine as Biomarker
- Author
- A Arias
- A Arias
- A Arias
- A Arias-Dimas
- A Hasim
- A Torremans
- AF Perna
- AL Gropman
- AP Halestrap
- B Kloeckener-Gruissem
- B Kuhlback
- B Marescau
- B Marescau
- B Marescau
- BD Cohen
- C Dionisi Vici
- C Valongo
- CB Item
- CG Choi
- CR Alves
- D Haas
- E BĂ©ard
- E Roze
- F Andrade
- F Andrade
- FJ Spronsen van
- GS Salomons
- I Sipilä
- J Abplanalp
- J Campistol
- J Takanashi
- J Verhelst
- JD Ndika
- JM Baruth
- JM Kamp van de
- JM Kamp van de
- JM Kamp van de
- JS Choi
- K Figura Von
- K Heinänen
- K Heinänen
- K Nänto-Salonen
- K Vandekerckhove
- KM Selnaes
- LK Schnackenberg
- LS Almeida
- LS Almeida
- M Joncquel-Chevalier Curt
- MC Bianchi
- MF Beal
- MJ Peral
- NM Corrigan
- NM Verhoeven
- O Shaham
- OA Bodamer
- P Szatmari
- PD Balsom
- PJ Höglund
- RA Kley
- S Boenzi
- S Boenzi
- S Boenzi
- S Cognat
- S Harvey
- S Mavel
- S Natelson
- S Pajares
- S Stöckler
- T Wallimann
- TA Clayton
- TA Fedele
- V Leuzzi
- V Valayannopoulos
- Y Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textHomoarginine in the renal and cardiovascular systems
- Author
- A Jaźwińska-Kozuba
- A Krebs
- A Köttgen
- A Meinitzer
- A Meinitzer
- A Shimomura
- A Sobczak
- A Tomaschitz
- A Tomaschitz
- AA Kayacelebi
- AA Khalil
- Andreas Meinitzer
- Andreas Tomaschitz
- B Marescau
- B Marescau
- BrĂain Ăł Hartaigh
- C Drechsler
- C Drechsler
- C Drechsler
- C Moali
- CA Lygate
- CA Lygate
- Christiane Drechsler
- CM Stevens
- CU Choe
- CU Choe
- D Atzler
- D Atzler
- D Atzler
- D Atzler
- D Phillips
- D Tsikas
- D Tsikas
- DM McGuire
- EA Bell
- F Blachier
- F Hafner
- F Schwegler
- F Wu
- Florian Lang
- G Wu
- H Steib
- HD Hoberman
- I Hinterseher
- Ioana Alesutan
- J Kielstein
- Jakob Voelkl
- JC Chambers
- JD Ndika
- JL Hall
- L Vogl
- LP Zwan van der
- M Al Banachaabouchi
- M Davids
- M Kakoki
- Martin Gaksch
- Martin GrĂĽbler
- ME Cullen
- ME Kleber
- ML Summar
- MW Radomski
- Nicolas Verheyen
- O Levillain
- P Magnusson
- P Ravani
- P Valtonen
- PY Chen
- R Henningsson
- RN Rodionov
- S Edvardson
- S Pilz
- S Pilz
- S Pilz
- S Pilz
- S Pilz
- S Pilz
- SL Rao
- SS Singh
- Stefan Pilz
- W März
- WC McClure
- Winfried März
- WL Ryan
- Y Tofuku
- Y Zhu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textLaboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
- Author
- A Arias
- A Humm
- 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 textX-linked creatine transporter deficiency: clinical aspects and pathophysiology
- Author
- A Arias
- A Arias
- A Bizzi
- A Chilosi
- A Chilosi
- A Enrico
- A Evangeliou
- A Hunter
- A Möller
- A Newmeyer
- A Newmeyer
- A Schmidt
- A Schulze
- A Schulze
- A Schulze
- A Torremans
- A Trotier-Faurion
- A Verma
- A Yamashita
- AAM Morris
- AJ Clark
- AJ Defalco
- AM Gonzalez
- AS Kristensen
- B Kloeckener-Gruissem
- B Marescau
- C Carducci
- C Carducci
- C Choe
- C Fons
- C Fons
- C Grunau
- C Guimbal
- C Guimbal
- C Hinnell
- C Martinez-Munoz
- C Stromberger
- C Valongo
- C Villar
- CA Lygate
- CB Item
- CF Souza de
- CI Nabuurs
- CSW Mak
- DJ O'Rourke
- DL Christie
- DM McGuire
- E Adriano
- E Boehm
- E Hautman
- E Omerovic
- EE Edison
- EE Eichler
- EH Rosenberg
- EH Rosenberg
- F Iqbal
- F Nasrallah
- F Nasrallah
- G Lunardi
- Gajja S. Salomons
- GB Gerber
- GE Torres
- GJ Pyne-Geithman
- GMS Mancini
- GR Steenge
- Grazia M. Mancini
- GS Iyer
- GS Salomons
- GS Salomons
- H Caldeira Araujo
- H Li
- H Osaka
- H Taegtmeyer
- HD Hoberman
- HE Kan
- HE Kan
- HE Kan
- HH Sitte
- HK Happe
- I Sora
- IA Anselm
- IA Anselm
- J Abplanalp
- J Ndika
- J Vodopiutz
- J Wallis
- J Zuercher
- JB Walker
- JD Loike
- JDT Ndika
- JE Odoom
- JF Pilsum Van
- JF Pilsum Van
- JH Bothwell
- JH Bothwell
- Jiddeke M. van de Kamp
- JJ Brault
- JJ Castorino
- JM Kamp van de
- JM Kamp van de
- JM Kamp van de
- JM Kamp van de
- JR Dodd
- JR Dodd
- JR Dodd
- JR Dodd
- JT Brosnan
- JT Brosnan
- KA Hahn
- KM Cecil
- KT Verbruggen
- KT Verbruggen
- L Lion-Francois
- L Moxon-Lester
- L Perasso
- L Perasso
- LF Barnwell
- LM Stead
- LM Stead
- LS Almeida
- LS Almeida
- M Belanger
- M Dezortova
- M Garcia-Delgado
- M Garcia-Delgado
- M Joncquel-Chevalier Curt
- M Shojaiefard
- M Shojaiefard
- M Shojaiefard
- M Tachikawa
- M Tachikawa
- M Tachikawa
- M Tachikawa
- M Tarnopolsky
- M Tosco
- M Wyss
- MA Mencarelli
- MC Bianchi
- MC Bianchi
- MC Schiaffino
- MD Darrabie
- MD Saltarelli
- ME Cullen
- MJ Peral
- MJ Peral
- MJ Peral
- ML Guerrero-Ontiveros
- MM Daly
- MM Mancardi
- MN Orsenigo
- MR Skelton
- MS Knaap van der
- MS Queiroz
- N Strutz-Seebohm
- NH Chen
- NM Verhoeven
- NM Verhoeven
- O Braissant
- O Braissant
- O Braissant
- O Braissant
- O Braissant
- O Braissant
- O Braissant
- O Speer
- OA Bodamer
- OA Bodamer
- OS Ipsiroglu
- OT Betsalel
- OT Betsalel
- OT Betsalel
- P Cacciagli
- P Dechent
- P Garcia-Miranda
- P Poo-Arguelles
- P Schloss
- PE Sijens
- PJ Allen
- PJ Hoglund
- PJ Pouwels
- R Battini
- R Battini
- R Dringen
- R Ensenauer
- RC Harris
- RH Andres
- RJ Snow
- RJ Snow
- RP Silva da
- RR Alfieri
- S Edvardson
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Mercimek-Mahmutoglu
- S Ohtsuki
- S Stockler
- S Stockler
- S Stockler-Ipsiroglu
- SC Hathaway
- SR Nash
- SU Dhar
- T Kleefstra
- T Nakashima
- T Wallimann
- TJ DeGrauw
- TJ Degrauw
- UFH Engelke
- V Ganesan
- V Leuzzi
- V Leuzzi
- V Valayannopoulos
- V Valayannopoulos
- W Dai
- WKJ Renema
- Y Kurosawa
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full text
