Creatine and creatine kinase in health and disease

od Salomons, Gajja S., Wyss, Markus.
Wydane 2007

Reply to Mandel

od Salomons, Gajja S., Ropers, Hans-Hilger
Wydane 2004

CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency

od Bouts, Antonia H., Roofthooft, Marcus T. R., Salomons, Gajja S., Davin, Jean-Claude
Wydane 2010

Progress in understanding 2-hydroxyglutaric acidurias

od Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Wydane 2012

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

od von Renesse, Anja, Morales-Gonzalez, Susanne, Gill, Esther, Salomons, Gajja S., Stenzel, Werner, Schuelke, Markus
Wydane w JIMD Rep (2018)

Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

od Al Balushi, Aaisha, Matviychuk, Diana, Jobling, Rebekah, Salomons, Gajja S., Blaser, Susan, Mercimek‐Andrews, Saadet
Wydane w JIMD Rep (2019)

Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse

od Vogel, Kara R, Ainslie, Garrett R, Jansen, Erwin E W, Salomons, Gajja S, Gibson, K Michael
Wydane w Ann Clin Transl Neurol (2015)

Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency

od Knerr, Ina, Gibson, K. Michael, Murdoch, Geoffrey, Salomons, Gajja S., Jakobs, Cornelis, Combs, Susan, Pearl, Phillip L.
Wydane 2010

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

od Brown, Madalyn, Turgeon, Coleman, Rinaldo, Piero, Pop, Ana, Salomons, Gajja S., Roullet, Jean‐Baptiste, Gibson, K. Michael
Wydane w JIMD Rep (2020)

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter

od van der Voorn, J. Patrick, Pouwels, Petra J. W., Salomons, Gajja S., Barkhof, Frederik, van der Knaap, Marjo S.
Wydane 2009

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells

od Vogel, Kara R., Ainslie, Garrett R., Jansen, Erwin E., Salomons, Gajja S., Roullet, Jean-Baptiste, Gibson, K. Michael
Wydane w PLoS One (2017)

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

od Huck, Jojanneke H. J., Verhoeven, Nanda M., Struys, Eduard A., Salomons, Gajja S., Jakobs, Cornelis, van der Knaap, Marjo S.
Wydane 2004

Familial 6p22.2 Duplication Associates with Mild Developmental Delay and Increased SSADH Activity

od Siggberg, Linda, Mustonen, Aki, Schuit, Robert, Salomons, Gajja S, Roos, Birthe, Gibson, K. Michael, Jakobs, Cornelis, Ignatius, Jaakko, Knuutila, Sakari
Wydane 2011

Clinical and molecular characteristics of two transaldolase-deficient patients

od Tylki-Szymanska, Anna, Wamelink, Mirjam M. C., Stradomska, Teresa J., Salomons, Gajja S., Taybert, Joanna, Dąbrowska-Leonik, Nel, Rurarz, Małgorzata
Wydane w Eur J Pediatr (2014)

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency

od DiBacco, Melissa L., Pop, Ana, Salomons, Gajja S., Hanson, Ellen, Roullet, Jean-Baptiste, Gibson, K. Michael, Pearl, Phillip L.
Wydane w Neurology (2020)

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

od Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis
Wydane 2005

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

od Salomons, Gajja S., van Dooren, Silvy J. M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis
Wydane 2001

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

od Berends, Lisette M., Struys, Eduard A., Roos, Birthe, Holwerda, Ulbe, Jansen, Erwin E. W., Salomons, Gajja S., Wamelink, Mirjam M. C.
Wydane w JIMD Rep (2017)

A Hypomorphic Dars1(D367Y) Model Recapitulates Key Aspects of the Leukodystrophy HBSL

od Fröhlich, Dominik, Mendes, Marisa I., Kueh, Andrew J., Bongers, Andre, Herold, Marco J., Salomons, Gajja S., Housley, Gary D., Klugmann, Matthias
Wydane w Front Cell Neurosci (2021)

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutar...

od Prasun, Pankaj, Young, Sarah, Salomons, Gajja, Werneke, Andrea, Jiang, Yong-hui, Struys, Eduard, Paige, Mikell, Avantaggiati, Maria Laura, McDonald, Marie
Wydane w JIMD Rep (2015)