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Author/Creator Salomons, Gajja S.

1. A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Issue 12 (4th October 2021)

Authors:
Ravel, Jean‐Marie; Dreumont, Natacha; Mosca, Pauline; Smith, Desiree E. C.; Mendes, Marisa I.; Wiedemann, Arnaud; Coelho, David; Schmitt, Emmanuelle; Rivière, Jean‐Baptiste; Tran Mau‐Them, Frédéric; Thevenon, Julien; Kuentz, Paul; Polivka, Marc; Fuchs, Sabine A.; Kok, Gautam; Thauvin‐Robinet, Chr...
Journal:
Human mutation
Issue:
Volume 42:Issue 12(2021)
Page Start:
1576
Record Type:
Journal Article
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2. A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D‐2‐hydroxyglutaric aciduria type II mouse model. Issue 6 (28th July 2016)

Authors:
Wang, Fang; Travins, Jeremy; Lin, Zhizhong; Si, Yaguang; Chen, Yue; Powe, Josh; Murray, Stuart; Zhu, Dongwei; Artin, Erin; Gross, Stefan; Santiago, Stephanie; Steadman, Mya; Kernytsky, Andrew; Straley, Kimberly; Lu, Chenming; Pop, Ana; Struys, Eduard A.; Jansen, Erwin E. W.; Salomons, Gajja S.; D...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 6(2016)
Page Start:
807
Record Type:
Journal Article
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3. An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants. Issue 2 (13th December 2017)

Authors:
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El‐...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 2(2018)
Page Start:
169
Record Type:
Journal Article
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4. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. (12th March 2019)

Authors:
van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E.C.; Rudinger-Thirion, Joëlle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richa...
Journal:
Neurology
Issue:
Volume 92:Number 11(2019)
Page Start:
Record Type:
Journal Article
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5. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. Issue 1 (11th February 2019)

Authors:
Williams, Monique; Valayannopoulos, Vassili; Altassan, Ruqaiah; Chung, Wendy K.; Heijboer, Annemieke C.; Keng, Wei Teik; Lapatto, Risto; McClean, Patricia; Mulder, Margot F.; Tylki‐Szymańska, Anna; Walenkamp, Marie‐Jose E.; Alfadhel, Majid; Alakeel, Hajar; Salomons, Gajja S.; Eyaid, Wafaa; Wameli...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
147
Record Type:
Journal Article
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7. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. Issue 4 (May 2016)

Authors:
Thurm, Audrey; Himelstein, Daniel; D'Souza, Precilla; Rennert, Owen; Jiang, Susanqi; Olatunji, Damilola; Longo, Nicola; Pasquali, Marzia; Swedo, Susan; Salomons, Gajja S.; Carrillo, Nuria
Journal:
Journal of developmental and behavioral pediatrics
Issue:
Volume 37:Issue 4(2016)
Page Start:
Record Type:
Journal Article
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8. D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants. Issue 7 (13th April 2019)

Authors:
Pop, Ana; Struys, Eduard A.; Jansen, Erwin E. W.; Fernandez, Matilde R.; Kanhai, Warsha A.; van Dooren, Silvy J. M.; Ozturk, Senay; van Oostendorp, Justin; Lennertz, Pascal; Kranendijk, Martijn; van der Knaap, Marjo S.; Gibson, K. Michael; van Schaftingen, Emile; Salomons, Gajja S.
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
975
Record Type:
Journal Article
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9. Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review. Issue 11 (12th October 2021)

Authors:
Tjon, Jill K.; Lakeman, Phillis; van Leeuwen, Elisabeth; Waisfisz, Quinten; Weiss, Marjan M.; Tan‐Sindhunata, Gita M. B.; Nikkels, Peter G. J.; van der Voorn, Patrick J. P.; Salomons, Gajja S.; Burchell, George L.; Linskens, Ingeborg H.; van der Knoop, Bloeme J.; de Vries, Johanna I. P.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 11(2021)
Page Start:
n/a
Record Type:
Journal Article
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10. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?. Issue 5 (3rd February 2015)

Authors:
Wamelink, Mirjam M. C.; Ramos, Ruben J. J. F.; den van Elzen, Annette P. M.; Ruijter, George J. G.; Bonte, Ramon; Diogo, Luisa; Garcia, Paula; Neves, Nelson; Nota, Benjamin; Haschemi, Arvand; Tavares de Almeida, Isabel; Salomons, Gajja S.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 5(2015)
Page Start:
889
Record Type:
Journal Article
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