Search Results - "Donoghue, Sarah"

Intellectual disability: A potentially treatable condition by Donoghue, Sarah E, Amor, David J

“…The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the…”
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Developmental regression with early feeding difficulties and characteristic neuroimaging features of H‐ABC in an infant from a TUBB4A genetic variant by Charles‐Britton, Billie, Leong, Yen Lee, Clark, Damian, Lynch, Matthew, Donoghue, Sarah E

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Smith-Lemli-Opitz syndrome: clinical and biochemical correlates by Donoghue, Sarah E, Pitt, James J, Boneh, Avihu, White, Susan M

“…Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The…”
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Pain management challenges in a patient with mucopolysaccharidosis IVA by Gurgius, Marcus, Donoghue, Sarah, Wallace, Robyn A.

“…Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain…”
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Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature by Heath, Oliver, Pitt, James, Mandelstam, Simone, Kuschel, Carl, Vasudevan, Anand, Donoghue, Sarah

“…Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate…”
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P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome by Donoghue, Sarah, Skraban, Cara, Squicciarini, Jake, Wang, Jing, Rippert, Alyssa, McDonald-McGinn, Donna, Zackai, Elaine

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Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy by Donoghue, Sarah E., White, Susan M., Tan, Tiong Yang, Kowalski, Remi, Morava, Eva, Yaplito‐Lee, Joy

“…We report a patient diagnosed with PGM1‐CDG at 11 years of age after two biallelic likely pathogenic variants in PGM1 were found on research genomic…”
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Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies by Akesson, Lauren S., Rius, Rocio, Brown, Natasha J., Rosenbaum, Jeremy, Donoghue, Sarah, Stormon, Michael, Chai, Charmaine, Bordador, Esmeralda, Guo, Yiran, Hakonarson, Hakon, Compton, Alison G., Thorburn, David R., Amarasekera, Sumudu, Marum, Justine, Monaco, Alisha, Lee, Crystle, Chong, Belinda, Lunke, Sebastian, Stark, Zornitza, Christodoulou, John

“…Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are…”
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Advances in genomic testing by Donoghue, Sarah, Downie, Lilian, Stutterd, Chloe

“…Background: Advances in genomic technology and our understanding of Mendelian disease-causing genes have led to an increased use of genomic testing in clinical…”
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Case series on patients with delayed diagnosis of mild/moderate alpha-mannosidosis by Stepien, Karolina M., Hennermann, Julia B., Curiati, Marco A., Donoghue, Sarah, Nurse, James H.

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The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment by Donoghue, Sarah, Wright, Jordan, Voss, Anne K., Lockhart, Paul J., Amor, David J.

“…The Mendelian disorders of chromatin machinery (MDCMs) represent a distinct subgroup of disorders that present with neurodevelopmental disability. The…”
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Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI by Kowalski, Tanya, Donoghue, Sarah, de Jong, Gerard, Mack, Heather G

“…To describe and compare the systemic and ocular findings in two siblings with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), one treated with…”
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Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies by Stehr, Antonia M, Lenberg, Jerica, Friedman, Jennifer, Dobbelaere, Dries, Imbard, Apolline, Levy, Jonathan, Donoghue, Sarah, Derive, Nicolas, Stoeva, Radka, Gueguen, Paul, Zech, Michael

“…Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability…”
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The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis by Campbell, Ian M., Crowley, T. Blaine, Keena, Beth, Donoghue, Sarah, McManus, Morgan L., Zackai, Elaine H.

“…Telemedicine has long been considered as an attractive alternative methodology in clinical genetics to improve patient access and convenience. Given the…”
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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management by Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari‐Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva

“…Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as…”
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The nature and spatial variability of lowland savanna soils: Improving the resolution of soil properties to support land management policy by Donoghue, Sarah, Furley, Peter A., Stuart, Neil, Haggis, Robyn, Trevaskis, Alex, Lopez, German, Aitkenhead, Matt

“…A fresh approach is presented to address the increasingly urgent need for alternative land management strategies in savannas. We illustrate how fine‐scale…”
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2772 New diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting as bilateral cerebral infarcts by Swarup, Oshi, Yassi, Nawaf, Fazio, Timothy, Donoghue, Sarah, Davis, Stephen

“…BackgroundMitochondrial disorders can manifest in stroke-like episodes which can pose several diagnostic and management challenges in the acute…”
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GP251 Is heart rate variability (HRV) a predictor of intraventricular haemorrhage (IVH) in preterm infants? by Donoghue, Sarah, O’Toole, John, Finn, Daragh, Garvey, Aisling, Pavel, Andreea, Livingstone, Vicki, Boylan, Geraldine, Dempsey, Eugene

“…IntroductionIntraventricular haemorrhage (IVH) occurs in up to 15–20% of babies born before 32 weeks, and up to 30% in babies less than 28 weeks…”
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Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females by Clarkston, Kathryn, Lee, Joy, Donoghue, Sarah, Peters, Heidi, Eiroa, Hernan, Shah, Amit A., Loomes, Kathleen, Wen, Jessica, Oliver, Mark, Hardikar, Winita, Prada, Carlos E., Asai, Akihiro

“…We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepatocyte injury in which initial…”
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Early-onset vitamin B 6 -dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature by Heath, Oliver, Pitt, James, Mandelstam, Simone, Kuschel, Carl, Vasudevan, Anand, Donoghue, Sarah

“…Vitamin B -dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal-5'-phosphate…”
Get full text