Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Anne Boney"'
Publikováno v:
Quality of Life Research
Purpose Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder characterized by a deficiency of the sucrase-isomaltase (SI) enzyme complex within the brush border membrane of the small intestine. Mutations in the SI gene result in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db29a8cf014cd76dd168a4445a67b441
https://doi.org/10.1007/s11136-021-02819-z
https://doi.org/10.1007/s11136-021-02819-z
Publikováno v:
Journal of the Academy of Nutrition and Dietetics. 118(3)
Background Sucrose-isomaltase deficiency (SID) remains underdiagnosed. Absent or reduced enzyme activity promotes diarrhea, abdominal bloating, and flatulence from undigested and malabsorbed disaccharides. Frequency and severity of gastrointestinal s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::138dec645bb0ea8d083e1fffdb09cbc7
https://pubmed.ncbi.nlm.nih.gov/29311037
https://pubmed.ncbi.nlm.nih.gov/29311037
Autor:
Michael S. Watson, Pamela Arn, Dev M. Desai, Deeksha Bali, Lisa D. Hobson-Webb, Stephanie Austin, Ronald G. Haller, Wendy K. Chung, Anne Boney, Laura E. Case, David A. Weinstein, Stephanie Burns Wechsler, Alastair D. Smith, Areeg El-Gharbawy, Priya S. Kishnani, G. Peter A Smit
Publikováno v:
Genetics in Medicine, 12(7), 446-463. Nature Publishing Group
Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines doe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f35f8d3a1fa70c0eb85f02acfec8b8d
https://doi.org/10.1097/GIM.0b013e3181e655b6
https://doi.org/10.1097/GIM.0b013e3181e655b6
Autor:
Susan Bouchard, Donald P. Frush, Yuan-Tsong Chen, Rabi Hanna, Priya S. Kishnani, Claire Morgan, Anne Boney, Laura E. Case, Joanne Mackey, Vidya Krishnamurthy, Deyanira Corzo, Stephanie DeArmey, Thomas Weber
Publikováno v:
Pediatric Radiology. 37:437-445
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf1ad23b06f9e926f2f2b6e3e27b518
https://doi.org/10.1007/s00247-007-0428-y
https://doi.org/10.1007/s00247-007-0428-y
Autor:
S. H. Chaing, S. D. Weavil, Priya S. Kishnani, Anne Boney, Dianne M. Frazier, David S. Millington, Wendy E. Smith, E. G. Moore, Joseph Muenzer, Shawn E. McCandless, Marie T. McDonald, Dwight D. Koeberl
Publikováno v:
Journal of Inherited Metabolic Disease. 26:25-35
Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6955456e37bd1729cff155d6b80647de
https://doi.org/10.1023/a:1024015227863
https://doi.org/10.1023/a:1024015227863
Autor:
Yuan-Tsong Chen, Priya S. Kishnani, Denise Peterson, Talmage T. Brown, Daniel K. Benjamin, T Juopperi, Mark W. Jackson, R. M. Beaty, Anne Boney, Dwight D. Koeberl, Andrew Bird
Publikováno v:
Gene Therapy. 9:1015-1022
Therapy in glycogen storage disease type Ia (GSD Ia), an inherited disorder of carbohydrate metabolism, relies on nutritional support that postpones but fails to prevent long-term complications of GSD Ia. In the canine model for GSD Ia, we evaluated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669436bef6a68b9c5fab90032be94d0a
https://doi.org/10.1038/sj.gt.3301728
https://doi.org/10.1038/sj.gt.3301728
Autor:
Deeksha Bali, Wendy K. Chung, Priya S. Kishnani, David A. Weinstein, Joseph I. Wolfsdorf, Pamela Arn, Michael S. Watson, David C. Dale, Stephanie Austin, Aditi I Dagli, Stephanie Burns Wechsler, Dwight D. Koeberl, Jose E. Abdenur, Michael J. Somers, Anne Boney
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 16(11)
Disclaimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this guideline is completely voluntary and does not necessarily ensure a successful medical outcome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75244c24cf9a9fa724f151a7bbb6fdfb
https://pubmed.ncbi.nlm.nih.gov/25356975
https://pubmed.ncbi.nlm.nih.gov/25356975
Publikováno v:
Journal of Inherited Metabolic Disease. 22:795-801
The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36318cb2a9e48da9b69b9ca4aa363d1c
https://doi.org/10.1023/a:1005549823146
https://doi.org/10.1023/a:1005549823146
Autor:
Richard E. Lutz, Priya S. Kishnani, Avihu Boneh, Deeksha Bali, Stephanie Austin, Keri Fredrickson, Anne Boney, Catherine Rehder, Jennifer L. Goldstein, David A. Weinstein
Publikováno v:
Molecular genetics and metabolism. 111(3)
Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::836c8e1cbea454bdfefc8499c160207c
https://pubmed.ncbi.nlm.nih.gov/24389071
https://pubmed.ncbi.nlm.nih.gov/24389071
Autor:
B. I. Brown, T. DeClue, Anne Boney, Priya S. Kishnani, D. A. Piccoli, Allyn McConkie-Rosell, Joseph Boyle, Yuan-Tsong Chen, Jianjun Shen, C. Wilson
Publikováno v:
Journal of Inherited Metabolic Disease. 19:51-58
The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c360700f5f2b9877b26d646c4db7ae56
https://doi.org/10.1007/bf01799348
https://doi.org/10.1007/bf01799348