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Author/Creator Chapman, Kimberly A.

11. Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium. Issue 2 (14th November 2022)

Authors:
Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Cortès‐Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Li...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
220
Record Type:
Journal Article
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12. Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency. Issue 4 (9th May 2022)

Authors:
Yverneau, Mathilde; Leroux, Stéphanie; Imbard, Apolline; Gleich, Florian; Arion, Alina; Moreau, Caroline; Nassogne, Marie‐Cécile; Szymanowski, Marie; Tardieu, Marine; Touati, Guy; Bueno, María; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Huemer, Martina; Ješina, Pavel; Janssen, Mirian C. H.; Kölker, S...
Other Names:
Martins Ana Maria investigator.; Alonso Javier Blasco investigator.; Chabrol Brigitte investigator.; Crushell Ellen investigator.; Dionisi‐Vici Carlo investigator.; Grünewald Stephanie investigator.; Mention Karine investigator.; Mundy Helen investigator.; Murphy Elaine investigator.; Fraile Pila...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
848
Record Type:
Journal Article
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13. Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2. Issue 10 (17th August 2020)

Authors:
Xiao, Changrui; Astiazaran‐Symonds, Esteban; Basu, Shrabani; Kisling, Monisha; Scaglia, Fernando; Chapman, Kimberly A.; Wang, Yudong; Vockley, Jerry; Ferreira, Carlos R.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 10(2020)
Page Start:
2426
Record Type:
Journal Article
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14. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry. Issue 2 (17th February 2019)

Authors:
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
333
Record Type:
Journal Article
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15. Propionyl‐CoA carboxylase pcca‐1 and pccb‐1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. Issue 2 (20th November 2017)

Authors:
Chapman, Kimberly A.; Ostrovsky, Julian; Rao, Meera; Dingley, Stephen D.; Polyak, Erzsebet; Yudkoff, Marc; Xiao, Rui; Bennett, Michael J.; Falk, Marni J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 2(2018)
Page Start:
157
Record Type:
Journal Article
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16. Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. Issue 2 (10th December 2020)

Authors:
Summerlin, Maxwell L.; Regier, Debra S.; Fraser, Jamie L.; Chapman, Kimberly A.; Kafashzadeh, Dariush; Billington, Charles; Kisling, Monisha; Grochowsky, Angela; Ah Mew, Nicholas; Shur, Natasha
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 2(2021)
Page Start:
500
Record Type:
Journal Article
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