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Journal of Pediatric Hematology/Oncology|December 10, 2003
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNAIna Knerr, Markus Metzler, Charlotte Marie Niemeyer, et al.
Pediatric Neurology|March 23, 2010
Neuropathology in succinic semialdehyde dehydrogenase deficiencyIna Knerr, K Michael Gibson, Geoffrey Murdoch, et al.
JIMD Reports|March 6, 2023
Autonomic instability, arrhythmia and visual impairment in a new presentation of <i>MTFMT</i>-related mitochondrial diseaseCaoimhe Howard, Arundhati Dev-Borman, John Stokes, et al.
JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.
JIMD Reports|February 23, 2013
Leptin levels in children and adults with classic galactosaemiaIna Knerr, Karen P Coss, Peter P Doran, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 2, 2007
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndromeIna Knerr, K Michael Gibson, Jaya Ganesh, et al.
Pediatric Diabetes|August 28, 2009
Initial insulin therapy in children and adolescents with type 1 diabetes mellitusDieter Weitzel, Dieter Weitzela, Ulla Pfeffer, et al.
European Journal of Pediatrics|September 4, 2007
Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management systemTilman Rohrer, Eva Stierkorb, Matthias Grabert, et al.
American Journal of Human Genetics|October 18, 2008
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10Eric A Sherman, Kevin A Strauss, Silvia Tortorelli, et al.
Endocrinology|October 23, 2004
Differential regulation of leptin synthesis in rats during short-term hypoxia and short-term carbon monoxide inhalationUdo Meissner, Claudia Hänisch, Iris Ostreicher, et al.
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