Search Results - "ABDENUR, JOSE E."

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics by Kishnani, Priya S., Austin, Stephanie L., Abdenur, Jose E., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Chung, Wendy K., Dagli, Aditi I., Dale, David, Koeberl, Dwight, Somers, Michael J., Burns Wechsler, Stephanie, Weinstein, David A., Wolfsdorf, Joseph I., Watson, Michael S.

“…Disclaimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this…”
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes by Simon, Mariella T., Eftekharian, Shaya S., Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.

“…Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components…”
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System by Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.

“…Neuronal ceroid lipofuscinosis (NCL) is a genetically heterogeneous group of lysosomal diseases that collectively compose the most common Mendelian form of…”
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Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error by Shafer, Grant J, Abdenur, Jose E, Dhar, Vijay, Mikhael, Michel

“…Total parental nutrition (TPN) is a critical component of neonatal intensive care. Supply shortages leading to deficiencies in TPN constituents can have…”
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ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder by Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.

“…Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present…”
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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation by Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.

“…LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain…”
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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening by Merritt, J. Lawrence, Vedal, Sverre, Abdenur, Jose E., Au, Sylvia M., Barshop, Bruce A., Feuchtbaum, Lisa, Harding, Cary O., Hermerath, Cheryl, Lorey, Fred, Sesser, David E., Thompson, John D., Yu, Arthur

“…Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder with widely varying presentations that has presented a…”
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Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study by Wang, Raymond Y., Monuki, Edwin S., Powers, James, Schwartz, Phillip H., Watkins, Paul A., Shi, Yang, Moser, Ann, Shrier, David A., Waterham, Hans R., Nugent, Diane J., Abdenur, Jose E.

“…Objective Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment,…”
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Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation by Puckett, Rebecca L, Moore, Steven A, Winder, Thomas L, Willer, Tobias, Romansky, Stephen G, Covault, Kelly King, Campbell, Kevin P, Abdenur, Jose E

“…Abstract The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of…”
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Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion by Stiles, Ashlee R., Simon, Mariella T., Stover, Alexander, Eftekharian, Shaya, Khanlou, Negar, Wang, Hanlin L., Magaki, Shino, Lee, Hane, Partynski, Kate, Dorrani, Nagmeh, Chang, Richard, Martinez-Agosto, Julian A., Abdenur, Jose E.

“…In humans, mitochondrial DNA (mtDNA) depletion syndromes are a group of genetically and clinically heterogeneous autosomal recessive disorders that arise as a…”
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Initial experience in the treatment of inherited mitochondrial disease with EPI-743 by Enns, Gregory M., Kinsman, Stephen L., Perlman, Susan L., Spicer, Kenneth M., Abdenur, Jose E., Cohen, Bruce H., Amagata, Akiko, Barnes, Adam, Kheifets, Viktoria, Shrader, William D., Thoolen, Martin, Blankenberg, Francis, Miller, Guy

“…Inherited mitochondrial respiratory chain disorders are progressive, life-threatening conditions for which there are limited supportive treatment options and…”
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan by Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco

“…Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye…”
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The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency by Huang, Yue, Chang, Richard, Abdenur, Jose E.

“…S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY…”
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy by Coughlin, Curtis R., Tseng, Laura A., Bok, Levinus A., Hartmann, Hans, Footitt, Emma, Striano, Pasquale, Tabarki, Brahim M., Lunsing, Roelineke J., Stockler-Ipsiroglu, Sylvia, Gordon, Shanlea, Van Hove, Johan L.K., Abdenur, Jose E., Boyer, Monica, Longo, Nicola, Andrews, Ashley, Janssen, Mirian C.H., van Wegberg, Annemiek, Prasad, Chitra, Prasad, Asuri N., Lamb, Molly M., Wijburg, Frits A., Gospe Jr, Sidney M., van Karnebeek, Clara

“…Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation…”
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Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass by Wang, Raymond Y., Chang, Richard C., Sowa, Mary E., Chang, Anthony C., Abdenur, Jose E.

“…Background Effects of circulatory arrest upon an inborn error of metabolism patient are unknown. Methods A retrospective chart review was performed of outcome…”
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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients by Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.

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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions by Mares Beltran, Carlos F, Tise, Christina G, Barrick, Rebekah, Niehaus, Annie D, Sponberg, Rebecca, Chang, Richard, Enns, Gregory M, Abdenur, Jose E

“…The state of California (CA) added X-linked adrenoleukodystrophy (X-ALD) to newborn screening (NBS) in 2016 via the measurement of…”
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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy by Tseng, Laura A., Abdenur, Jose E., Andrews, Ashley, Aziz, Verena G., Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Hartmann, Hans, Footitt, Emma J., Grønborg, Sabine, Janssen, Mirian C.H., Longo, Nicola, Lunsing, Roelineke J., MacKenzie, Alex E., Wijburg, Frits A., Gospe, Sidney M., Coughlin, Curtis R., van Karnebeek, Clara D.M.

“…Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer…”
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Reduction in newborn screening metabolic false-positive results following a new collection protocol by Morris, Mindy, Fischer, Kristin, Leydiker, Karen, Elliott, Lisa, Newby, Joan, Abdenur, Jose E.

“…Purpose: Newborn screening includes testing for many metabolic diseases. False-positive results are higher among neonatal intensive care unit infants,…”
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Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation by Miyake, Noriko, Yano, Shoji, Sakai, Chika, Hatakeyama, Hideyuki, Matsushima, Yuichi, Shiina, Masaaki, Watanabe, Yoriko, Bartley, James, Abdenur, Jose E., Wang, Raymond Y., Chang, Richard, Tsurusaki, Yoshinori, Doi, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Ogata, Kazuhiro, Goto, Yu-ichi, Matsumoto, Naomichi

“…ABSTRACT Mitochondrial complex III (CIII) deficiency is a relatively rare disease with high clinical and genetic heterogeneity. CIII comprises 11 subunits…”
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