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Fernando Scaglia

Showing results (51-60 of 190) with videos related to

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American Journal of Medical Genetics. Part A|May 26, 2026
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the LiteratureCharles R DiFalco, Aaron Williams, Claudia Soler-Alfonso, et al.
Pediatrics|March 3, 2007
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate dietDavid Dimmock, Keiko Kobayashi, Mikio Iijima, et al.
BMC Pediatrics|January 1, 2003
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolismFernando Scaglia, Angela E Scheuerle, Jeffrey A Towbin, et al.
American Journal of Medical Genetics|May 7, 2002
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)Olaf A F Bodamer, Heather J Church, Alan Cooper, et al.
BMC Medical Genetics|August 17, 2013
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiologyWilliam J Craigen, Brett H Graham, Lee-Jun Wong, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Expansion of the clinical phenotype of GALE deficiencyRebecca Markovitz, Nichole Owen, Lisa Forbes Satter, et al.
American Journal of Medical Genetics. Part A|July 7, 2022
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic herniaYoel Gofin, Xiaonan Zhao, Amanda Gerard, et al.
Molecular Genetics and Metabolism|February 9, 2025
Causes of mortality in the congenital disorders of glycosylationHana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, et al.
Pediatric Blood & Cancer|April 4, 2009
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosisLakshmi Venkateswaran, Fernando Scaglia, Valerie McLin, et al.
Molecular Genetics and Metabolism|May 31, 2022
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correctionJoshua Manor, Daniel Calame, Charul Gijavanekar, et al.
Pageof 19

Showing results (51-60 of 190) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|May 26, 2026
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the LiteratureCharles R DiFalco, Aaron Williams, Claudia Soler-Alfonso, et al.
Pediatrics|March 3, 2007
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate dietDavid Dimmock, Keiko Kobayashi, Mikio Iijima, et al.
BMC Pediatrics|January 1, 2003
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolismFernando Scaglia, Angela E Scheuerle, Jeffrey A Towbin, et al.
American Journal of Medical Genetics|May 7, 2002
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)Olaf A F Bodamer, Heather J Church, Alan Cooper, et al.
BMC Medical Genetics|August 17, 2013
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiologyWilliam J Craigen, Brett H Graham, Lee-Jun Wong, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Expansion of the clinical phenotype of GALE deficiencyRebecca Markovitz, Nichole Owen, Lisa Forbes Satter, et al.
American Journal of Medical Genetics. Part A|July 7, 2022
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic herniaYoel Gofin, Xiaonan Zhao, Amanda Gerard, et al.
Molecular Genetics and Metabolism|February 9, 2025
Causes of mortality in the congenital disorders of glycosylationHana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, et al.
Pediatric Blood & Cancer|April 4, 2009
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosisLakshmi Venkateswaran, Fernando Scaglia, Valerie McLin, et al.
Molecular Genetics and Metabolism|May 31, 2022
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correctionJoshua Manor, Daniel Calame, Charul Gijavanekar, et al.
Pageof 19