Results 21 to 30 of about 38,011 (312)

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

BMC Pediatrics, 2021
Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska   +5 more
doaj   +1 more source

Indications for pediatric liver transplantation [PDF]

, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis, Baburao Koneru, Carlos O. Esquivel, Esquivel, Esquivel, Gordon, Iwatsuki, Leonard Makowka, National Institutes of Health Consensus Development Conference Statement, Robert D. Gordon, Satoru Todo, Shaw, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Tzakis, Urbach, Wallis W. Marsh   +21 more
core   +1 more source

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Endocrinology, Diabetes & Metabolism, 2023
Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +1 more source

Pediatric Liver Transplantation: Then and Now [PDF]

, 2020
This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT, Carullo, PC, Davis, PJ, Tran, LT, Vitu, C   +4 more
core   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Novel MTO1 mutations associated with an intrafamilial phenotypic variability

Egyptian Journal of Medical Human Genetics, 2023
Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitochondrial disorder,
Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles   +4 more
doaj   +1 more source

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

Molecular Genetics and Metabolism Reports, 2021
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier   +9 more
doaj   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]

, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina, Kisinovsky, Isaac, Roa, Norma, Rozenfeld, Paula Adriana   +3 more
core   +5 more sources