Search Results - "Weinstein, David A"

Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children by Thornton, Paul S., MB, BCh, Stanley, Charles A., MD, De Leon, Diva D., MD, MSCE, Harris, Deborah, PhD, Haymond, Morey W., MD, Hussain, Khalid, MD, MPH, Levitsky, Lynne L., MD, Murad, Mohammad H., MD, MPH, Rozance, Paul J., MD, Simmons, Rebecca A., MD, Sperling, Mark A., MBBS, Weinstein, David A., MD, MMSc, White, Neil H., MD, Wolfsdorf, Joseph I., MB, BCh

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Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib by Jun, Hyun Sik, Weinstein, David A., Lee, Young Mok, Mansfield, Brian C., Chou, Janice Y.

“…Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a…”
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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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Natural History of Hepatocellular Adenoma Formation in Glycogen Storage Disease Type I by Wang, David Q., MD, Fiske, Laurie M., BS, Carreras, Caroline T, Weinstein, David A., MD, MMSc

“…Objective To characterize the natural history and factors related to hepatocellular adenoma (HCA) development in glycogen storage disease type Ia (GSD Ia)…”
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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome by Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.

“…Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and…”
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A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis by Arends, Charles J, Wilson, Lane H, Estrella, Ana, Kwon, Oh Sung, Weinstein, David A, Lee, Young Mok

“…Glycogen storage disease type IX (GSD-IX) constitutes nearly a quarter of all GSDs. This ketotic form of GSD is caused by mutations in phosphorylase kinase…”
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Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International by Drachmann, Danielle, Hoffmann, Erica, Carrigg, Austin, Davis-Yates, Beccie, Weaver, Valerie, Thornton, Paul, Weinstein, David A, Petersen, Jacob S, Shah, Pratik, Christesen, Henrik Thybo

“…Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress…”
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Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients by Resaz, Roberta, Cangelosi, Davide, Segalerba, Daniela, Morini, Martina, Uva, Paolo, Bosco, Maria Carla, Banderali, Giuseppe, Estrella, Ana, Wanner, Corbinian, Weinstein, David A, Sechi, Annalisa, Paci, Sabrina, Melis, Daniela, Di Rocco, Maja, Lee, Young Mok, Eva, Alessandra

“…Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α). Affected…”
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Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children by Brown, Laurie M., Corrado, Michelle M., van der Ende, Rixt M., Derks, Terry G. J., Chen, Margaret A., Siegel, Sara, Hoyt, Kate, Correia, Catherine E., Lumpkin, Christopher, Flanagan, Theresa B., Carreras, Caroline T., Weinstein, David A.

“…Introduction Ketone formation is a normal response when hypoglycemia occurs. Since the majority of children with recurrent hypoglycemia cannot be diagnosed…”
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Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI by Wilson, Lane H., Cho, Jun‐Ho, Estrella, Ana, Smyth, Joan A., Wu, Rong, Chengsupanimit, Tayoot, Brown, Laurie M., Weinstein, David A., Lee, Young Mok

“…Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the…”
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Method comparison of beta‐hydroxybutyrate point‐of‐care testing to serum in healthy children by Parmar, Komalben, Mosha, Maua, Weinstein, David A., Riba‐Wolman, Rebecca

“…Ketone production is a physiological phenomenon that occurs to avoid irreversible neurological damage from hypoglycemia, thereby serving as a marker of…”
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Ketotic hypoglycemia in patients with Down syndrome by Drachmann, Danielle, Carrigg, Austin, Weinstein, David A., Petersen, Jacob Sten, Christesen, Henrik Thybo

“…ABSTRACT Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The…”
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Re-Evaluating “Transitional Neonatal Hypoglycemia”: Mechanism and Implications for Management by Stanley, Charles A., MD, Rozance, Paul J., MD, Thornton, Paul S., MB, BCh, De Leon, Diva D., MD, Harris, Deborah, PhD, Haymond, Morey W., MD, Hussain, Khalid, MD, MSc, Levitsky, Lynne L., MD, Murad, Mohammad H., MD, MPH, Simmons, Rebecca A., MD, Sperling, Mark A., MBBS, Weinstein, David A., MD, White, Neil H., MD, Wolfsdorf, Joseph I., MB, BCh

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Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers by Chiu, Li-Ya, Kishnani, Priya S., Chuang, Tzu-Po, Tang, Cheng-Yang, Liu, Cheng-Yuan, Bali, Deeksha, Koeberl, Dwight, Austin, Stephanie, Boyette, Keri, Weinstein, David A., Murphy, Elaine, Yao, Adam, Chen, Yuan-Tsong, Li, Ling-Hui

“…Background It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I…”
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Refractory ulcers: The role of tumor necrosis factor–α by Weinstein, David A., BA, Kirsner, Robert S., MD, PhD

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When sugar isn't sweet: neutropenia in GSD-Ib by Weinstein, David A.

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A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor by Khalaf, Dina, Bell, Heather, Dale, David, Gupta, Vikas, Faghfoury, Hanna, Morel, Chantal F., Tierens, Anne, Weinstein, David A., Yan, Jiong, Thyagu, Santhosh, Maze, Dawn

“…Congenital neutropenias due to mutations in ELANE, SBDS or HAX1 or in the setting of glycogen storage disease (GSD) which is caused by SLC37A4 mutation, often…”
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Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia by Weinstein, David A., Correia, Catherine E., Saunders, Andrew C., Wolfsdorf, Joseph I.

“…The glycogen storage diseases comprise several inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. In…”
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Glycogen storage disease type Ib: role of glucose‐6‐phosphate transporter in cell metabolism and function by Sim, Sang Wan, Weinstein, David A., Lee, Young Mok, Jun, Hyun Sik

“…Cellular metabolism generally refers to biochemical processes that produce or consume energy within the cell. Recent studies have established that aberrant…”
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Fasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia by Parmar, Komalben, Mosha, Maua, Weinstein, David A, Riba-Wolman, Rebecca

“…Ketone production is a physiological phenomenon that occurs during beta-oxidation of free fatty acids. Distinguishing physiologic ketosis from pathologic…”
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