Search Results - "Ah Mew, Nicholas"

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories by Häberle, Johannes, Chakrapani, Anupam, Ah Mew, Nicholas, Longo, Nicola

“…The 'classic' organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation…”
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Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene by Jang, Yoon J., LaBella, Abigail L., Feeney, Timothy P., Braverman, Nancy, Tuchman, Mendel, Morizono, Hiroki, Ah Mew, Nicholas, Caldovic, Ljubica

“…The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in…”
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Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ by Ah Mew, Nicholas, MD, Krivitzky, Lauren, PhD, McCarter, Robert, ScD, Batshaw, Mark, MD, Tuchman, Mendel, MD

“…Objective To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): deficiency of carbamyl…”
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Do the data really support ordering fragile X testing as a first-tier test without clinical features? by Weinstein, Veronique, Tanpaiboon, Pranoot, Chapman, Kimberly A, Ah Mew, Nicholas, Hofherr, Sean

“…Purpose Current guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual…”
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations by Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A, Al Shamsi, Aisha, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L, Qu, Chunjing, Ding, Yan, Muzny, Donna M, Gibbs, Richard A, Eng, Christine M, Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E, Lupski, James R, Schaaf, Christian P, Yang, Yaping

“…Christian Schaaf, Yaping Yang and colleagues report that germline mutations in ABL1 , which is best known as part of the fusion gene BCR-ABL1 on the…”
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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis by Summerlin, Maxwell L., Regier, Debra S., Fraser, Jamie L., Chapman, Kimberly A., Kafashzadeh, Dariush, Billington, Charles, Kisling, Monisha, Grochowsky, Angela, Ah Mew, Nicholas, Shur, Natasha

“…Current rhabdomyolysis treatment guidelines vary based on the etiology and diagnosis, yet many cases evade conclusive diagnosis. In these cases, treatment…”
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Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl- l -glutamate by Ah Mew, Nicholas, MD, McCarter, Robert, ScD, Daikhin, Yevgeny, PhD, Lichter-Konecki, Uta, MD, PhD, Nissim, Ilana, Yudkoff, Marc, MD, Tuchman, Mendel, MD

“…Identical studies using stable isotopes were performed before and after a 3-day trial of oral N -carbamyl- l -glutamate (NCG) in 5 subjects with late-onset…”
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Propionyl-CoA carboxylase – A review by Wongkittichote, Parith, Ah Mew, Nicholas, Chapman, Kimberly A.

“…Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB…”
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The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification by Ducich, Nicole, Ah Mew, Nicholas, Bedoyan, Jirair K.

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N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy by Heibel, Sandra K., Ah Mew, Nicholas, Caldovic, Ljubica, Daikhin, Yevgeny, Yudkoff, Marc, Tuchman, Mendel

“…N‐acetylglutamate synthase (NAGS) catalyzes the conversion of glutamate and acetyl‐CoA to NAG, the essential allosteric activator of carbamyl phosphate…”
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A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG) by Parente, Fabienne, Mew, Nicholas Ah, Jaeken, Jaak, Gilfix, Brian M.

“…The Congenital Disorders of Glycosylation (CDG) are an expanding group of metabolic diseases with a broad clinical presentation. We sought to validate a new…”
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Progress and challenges in development of new therapies for urea cycle disorders by Soria, Leandro R, Ah Mew, Nicholas, Brunetti-Pierri, Nicola

“…Abstract Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to transfer nitrogen from ammonia into urea…”
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N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment by Ah Mew, Nicholas, Caldovic, Ljubica

“…The conversion of ammonia into urea by the human liver requires the coordinated function of the 6 enzymes and 2 transporters of the urea cycle. The initial and…”
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MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency by Ah Mew, Nicholas, MD, Loewenstein, Johanna B., MGC, Kadom, Nadja, MD, Lichter-Konecki, Uta, MD PhD, Gropman, Andrea L., MD, Martin, Jodie M., MGC, Vanderver, Adeline, MD

“…Abstract Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. Most patients…”
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Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature by Campeau, Philippe M., Ah Mew, Nicholas, Cartier, Lola, Mackay, Katherine L., Shaffer, Lisa G., Der Kaloustian, Vazken M., Thomas, Mary Ann

“…Monosomy 1p36 is an increasingly recognized chromosomal anomaly. We describe two patients with monosomy 1p36 who had brain abnormalities detected on prenatal…”
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Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder by Pickup, Elizabeth, Moore, Steven A., Suwannarat, Pim, Grant, Christina, Ah Mew, Nicholas, Gropman, Andrea, Sen, Kuntal

“…Exome sequencing (ES) is a useful tool in diagnosing suspected mitochondrial disease but can miss pathogenic variants for several reasons. Additional testing,…”
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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening by Peretz, Ryan H., Ah Mew, Nicholas, Vernon, Hilary J., Ganetzky, Rebecca D.

“…Elevated citrulline and C5-OH levels are reported as part of the newborn screening of core and secondary disorders on the Recommended Uniform Screening Panel…”
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A pandemic will not stop metabolic innovation by MacLeod, Erin, Starin, Danielle, Ah Mew, Nicholas, Regier, Debra S.

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The functional impact of 1,570 individual amino acid substitutions in human OTC by Lo, Russell S., Cromie, Gareth A., Tang, Michelle, Teng, Kevin, Owens, Katherine, Sirr, Amy, Kutz, J. Nathan, Morizono, Hiroki, Caldovic, Ljubica, Ah Mew, Nicholas, Gropman, Andrea, Dudley, Aimée M.

“…Deleterious mutations in the X-linked gene encoding ornithine transcarbamylase (OTC) cause the most common urea cycle disorder, OTC deficiency. This rare but…”
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Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises by Chanvanichtrakool, Mongkol, Schreiber, John M., Chen, Wei-Liang, Barber, John, Zhang, Anqing, Ah Mew, Nicholas, Schulze, Andreas, Wilkening, Greta, Nagamani, Sandesh C.S., Gropman, Andrea

“…This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders…”
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