The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

S Kolker; AG Cazorla; V Valayannopoulos; AM Lund; AB Burlina; J Sykut-Cegielska; FA Wijburg; EL Teles; J Zeman; C Dionisi-Vici; I Baric; D Karall; P Augoustides-Savvopoulou; L Aksglaede; JB Arnoux; P Avram; MR Baumgartner; J Blasco-Alonso; B Chabrol; A Chakrapani; K Chapman; ECI Saladelafont; ML Couce; L de Meirleir; D Dobbelaere; V Dvorakova; F Furlan; F Gleich; W Gradowska; S Grunewald; A Jalan; J Haberle; G Haege; R Lachmann; A Laemmle; E Langereis; P de Lonlay; D Martinelli; S Matsumoto; C Muhlhausen; HO de Baulny; C Ortez; L Pena-Quintana; DP Ramadza; E Rodrigues; S Scholl-Burgi; E Sokal; C Staufner; ML Summar; N Thompson; R Vara; IV Pinera; JH Walter; Monique Williams; P Burgard

doi:10.1007/s10545-015-9839-3

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

S Kolker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, J Sykut-Cegielska, FA Wijburg, EL Teles, J Zeman, C Dionisi-Vici, I Baric, D Karall, P Augoustides-Savvopoulou, L Aksglaede, JB Arnoux, P Avram, MR Baumgartner, J Blasco-Alonso, B Chabrol, A ChakrapaniK Chapman, ECI Saladelafont, ML Couce, L de Meirleir, D Dobbelaere, V Dvorakova, F Furlan, F Gleich, W Gradowska, S Grunewald, A Jalan, J Haberle, G Haege, R Lachmann, A Laemmle, E Langereis, P de Lonlay, D Martinelli, S Matsumoto, C Muhlhausen, HO de Baulny, C Ortez, L Pena-Quintana, DP Ramadza, E Rodrigues, S Scholl-Burgi, E Sokal, C Staufner, ML Summar, N Thompson, R Vara, IV Pinera, JH Walter, Monique Williams, P Burgard

Research output: Contribution to journal › Article › Academic › peer-review

166 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1041-1057
Number of pages	17
Journal	Journal of Inherited Metabolic Disease
Volume	38
Issue number	6
DOIs	https://doi.org/10.1007/s10545-015-9839-3
Publication status	Published - 2015

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10.1007/s10545-015-9839-3

http://hdl.handle.net/1765/84849

Cite this

Kolker, S., Cazorla, AG., Valayannopoulos, V., Lund, AM., Burlina, AB., Sykut-Cegielska, J., Wijburg, FA., Teles, EL., Zeman, J., Dionisi-Vici, C., Baric, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, JB., Avram, P., Baumgartner, MR., Blasco-Alonso, J., Chabrol, B., ... Burgard, P. (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Journal of Inherited Metabolic Disease, 38(6), 1041-1057. https://doi.org/10.1007/s10545-015-9839-3

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title = "The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation",

author = "S Kolker and AG Cazorla and V Valayannopoulos and AM Lund and AB Burlina and J Sykut-Cegielska and FA Wijburg and EL Teles and J Zeman and C Dionisi-Vici and I Baric and D Karall and P Augoustides-Savvopoulou and L Aksglaede and JB Arnoux and P Avram and MR Baumgartner and J Blasco-Alonso and B Chabrol and A Chakrapani and K Chapman and ECI Saladelafont and ML Couce and {de Meirleir}, L and D Dobbelaere and V Dvorakova and F Furlan and F Gleich and W Gradowska and S Grunewald and A Jalan and J Haberle and G Haege and R Lachmann and A Laemmle and E Langereis and {de Lonlay}, P and D Martinelli and S Matsumoto and C Muhlhausen and {de Baulny}, HO and C Ortez and L Pena-Quintana and DP Ramadza and E Rodrigues and S Scholl-Burgi and E Sokal and C Staufner and ML Summar and N Thompson and R Vara and IV Pinera and JH Walter and Monique Williams and P Burgard",

year = "2015",

doi = "10.1007/s10545-015-9839-3",

language = "Undefined/Unknown",

volume = "38",

pages = "1041--1057",

journal = "Journal of Inherited Metabolic Disease",

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Kolker, S, Cazorla, AG, Valayannopoulos, V, Lund, AM, Burlina, AB, Sykut-Cegielska, J, Wijburg, FA, Teles, EL, Zeman, J, Dionisi-Vici, C, Baric, I, Karall, D, Augoustides-Savvopoulou, P, Aksglaede, L, Arnoux, JB, Avram, P, Baumgartner, MR, Blasco-Alonso, J, Chabrol, B, Chakrapani, A, Chapman, K, Saladelafont, ECI, Couce, ML, de Meirleir, L, Dobbelaere, D, Dvorakova, V, Furlan, F, Gleich, F, Gradowska, W, Grunewald, S, Jalan, A, Haberle, J, Haege, G, Lachmann, R, Laemmle, A, Langereis, E, de Lonlay, P, Martinelli, D, Matsumoto, S, Muhlhausen, C, de Baulny, HO, Ortez, C, Pena-Quintana, L, Ramadza, DP, Rodrigues, E, Scholl-Burgi, S, Sokal, E, Staufner, C, Summar, ML, Thompson, N, Vara, R, Pinera, IV, Walter, JH, Williams, M & Burgard, P 2015, 'The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation', Journal of Inherited Metabolic Disease, vol. 38, no. 6, pp. 1041-1057. https://doi.org/10.1007/s10545-015-9839-3

TY - JOUR

T1 - The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

AU - Kolker, S

AU - Cazorla, AG

AU - Valayannopoulos, V

AU - Lund, AM

AU - Burlina, AB

AU - Sykut-Cegielska, J

AU - Wijburg, FA

AU - Teles, EL

AU - Zeman, J

AU - Dionisi-Vici, C

AU - Baric, I

AU - Karall, D

AU - Augoustides-Savvopoulou, P

AU - Aksglaede, L

AU - Arnoux, JB

AU - Avram, P

AU - Baumgartner, MR

AU - Blasco-Alonso, J

AU - Chabrol, B

AU - Chakrapani, A

AU - Chapman, K

AU - Saladelafont, ECI

AU - Couce, ML

AU - de Meirleir, L

AU - Dobbelaere, D

AU - Dvorakova, V

AU - Furlan, F

AU - Gleich, F

AU - Gradowska, W

AU - Grunewald, S

AU - Jalan, A

AU - Haberle, J

AU - Haege, G

AU - Lachmann, R

AU - Laemmle, A

AU - Langereis, E

AU - de Lonlay, P

AU - Martinelli, D

AU - Matsumoto, S

AU - Muhlhausen, C

AU - de Baulny, HO

AU - Ortez, C

AU - Pena-Quintana, L

AU - Ramadza, DP

AU - Rodrigues, E

AU - Scholl-Burgi, S

AU - Sokal, E

AU - Staufner, C

AU - Summar, ML

AU - Thompson, N

AU - Vara, R

AU - Pinera, IV

AU - Walter, JH

AU - Williams, Monique

AU - Burgard, P

PY - 2015

Y1 - 2015

U2 - 10.1007/s10545-015-9839-3

DO - 10.1007/s10545-015-9839-3

M3 - Article

SN - 0141-8955

VL - 38

SP - 1041

EP - 1057

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -