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MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.
Published in:
2011
By:
- Davison, James E.;
- Davies, Nigel P.;
- Wilson, Martin;
- Sun, Yu;
- Chakrapani, Anupam;
- McKiernan, Patrick J.;
- Walter, John H.;
- Gissen, P.;
- Peet, Andrew C.
Publication type:
journal article
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Published in:
Human Genetics, 2008, v. 124, n. 2, p. 187, doi. 10.1007/s00439-008-0538-0
By:
- Ridout, Cheryl K.;
- Brown, Ruth M.;
- Walter, John H.;
- Brown, Garry K.
Publication type:
Article
Temporomandibular disorders. 2. Non-surgical treatment.
Published in:
1995
By:
- Dimitroulis, George;
- Gremillion, Henry A.;
- Dolwick, M. Franklin;
- Walter, John H.;
- Dimitroulis, G;
- Gremillion, H A;
- Dolwick, M F;
- Walter, J H
Publication type:
journal article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
By:
- Posset, Roland;
- Garcia-Cazorla, Angeles;
- Valayannopoulos, Vassili;
- Leão Teles, Elisa;
- Dionisi-Vici, Carlo;
- Brassier, Anaïs;
- Burlina, Alberto B.;
- Burgard, Peter;
- Cortès-Saladelafont, Elisenda;
- Dobbelaere, Dries;
- Couce, Maria L.;
- Sykut-Cegielska, Jolanta;
- Häberle, Johannes;
- Lund, Allan M.;
- Chakrapani, Anupam;
- Schiff, Manuel;
- Walter, John H.;
- Zeman, Jiri;
- Vara, Roshni;
- Kölker, Stefan
Publication type:
Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
By:
- Heringer, Jana;
- Valayannopoulos, Vassili;
- Lund, Allan M.;
- Wijburg, Frits A.;
- Freisinger, Peter;
- Barić, Ivo;
- Baumgartner, Matthias R.;
- Burgard, Peter;
- Burlina, Alberto B.;
- Chapman, Kimberly A.;
- i Saladelafont, Elisenda Cortès;
- Karall, Daniela;
- Mühlhausen, Chris;
- Riches, Victoria;
- Schiff, Manuel;
- Sykut-Cegielska, Jolanta;
- Walter, John H.;
- Zeman, Jiri;
- Chabrol, Brigitte;
- Kölker, Stefan
Publication type:
Article

Found: 5

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Temporomandibular disorders. 2. Non-surgical treatment.

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.