scholarly journals Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

2016 ◽  
pp. 73-79 ◽  
Author(s):  
Amanda Smith ◽  
◽  
Skye McBride ◽  
Julien L. Marcadier ◽  
Jean Michaud ◽  
...  
Keyword(s):  
Citrate Carrier ◽  
Neonatal Presentation

scholarly journals Cloning and nucleotide sequence of the gene (citC) encoding a citrate carrier from several Salmonella serovars.

1992 ◽  
Vol 267 (14) ◽  
pp. 9559-9564
Author(s):  
N Ishiguro ◽  
H Izawa ◽  
M Shinagawa ◽  
T Shimamoto ◽  
T Tsuchiya
Keyword(s):  
Nucleotide Sequence ◽  
Citrate Carrier ◽  
Salmonella Serovars

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

2016 ◽  
Vol 170 (5) ◽  
pp. 1155-1164 ◽  
Author(s):  
Alexandra Topa ◽  
Mar Tulinius ◽  
Anders Oldfors ◽  
Carola Hedberg-Oldfors
Keyword(s):  
Shwachman Diamond Syndrome ◽  
Neonatal Presentation

scholarly journals Poland syndrome: neonatal presentation with axillary pterygium

2021 ◽  
Vol 14 (3) ◽  
pp. e241395
Author(s):  
Tânia dos Santos Mendo ◽  
Teresa Almeida ◽  
Ana Teresa Maria ◽  
Madalena Lopo Tuna
Keyword(s):  
Poland Syndrome ◽  
Neonatal Presentation

scholarly journals Neonatal Presentation of an Air-Filled Neck Mass that Enlarges with Valsalva: A Case Report

2015 ◽  
Vol 05 (02) ◽  
pp. e207-e211 ◽  
Author(s):  
Jasminkumar Patel ◽  
Howard Kilbride ◽  
Lorien Paulson
Keyword(s):  
Case Report ◽  
Neck Mass ◽  
Neonatal Presentation

Biogenesis of Rat Mitochondrial Citrate Carrier (CIC): The N-terminal Presequence Facilitates the Solubility of the Preprotein but does not act as a Targeting Signal

2003 ◽  
Vol 325 (2) ◽  
pp. 399-408 ◽  
Author(s):  
Vincenzo Zara ◽  
Alessandra Ferramosca ◽  
Ilaria Palmisano ◽  
Ferdinando Palmieri ◽  
Joachim Rassow
Keyword(s):  
Targeting Signal ◽  
Citrate Carrier

Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation

PEDIATRICS ◽  
2021 ◽  
pp. e2020011601
Author(s):  
Alessia Gallipoli ◽  
Gillian MacLean ◽  
Jagdeep S. Walia ◽  
Anupam Sehgal
Keyword(s):  
Hydrops Fetalis ◽  
Congenital Chylothorax ◽  
Neonatal Presentation
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