Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Kabir Jalal"'
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Background The International Classification of Diseases (ICD) coding system is the industry standard tool for billing, disease classification, and epidemiology purposes. Prior research has demonstrated ICD codes to have poor accuracy, partic
Externí odkaz:
https://doaj.org/article/aefb11e2322c4f3eb0ca8c1b35bfc7f3
Autor:
Thomas J. Langan, Kabir Jalal, Amy L. Barczykowski, Randy L. Carter, Molly Stapleton, Kenji Orii, Toshiyuki Fukao, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 35-42 (2020)
Abstract Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS to
Externí odkaz:
https://doaj.org/article/cc419e1a9be84711aacdc66fabfc4e7d
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 61 (2022)
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Hea
Externí odkaz:
https://doaj.org/article/2adc59a4846f422598fdddbfb03179dd
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-9 (2019)
Abstract Background The International Classification of Diseases (ICD) coding system is the industry standard tool for billing, disease classification, and epidemiology purposes. However, ICD codes are often not assigned or incorrectly given, particu
Externí odkaz:
https://doaj.org/article/40418b1f2b694915a226c08668a62bed
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy
Autor:
Thomas J. Langan, Amy Barczykowski, Kabir Jalal, Laura Sherwood, Heather Allewelt, Joanne Kurtzberg, Randy L. Carter
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 47-54 (2019)
Abstract Objectives To develop a quality of life (QOL) survey for Krabbe disease (KD), and to thereby improve understanding of its phenotypic expression and response to treatment. Methods The survey, the Leukodystrophy Quality of Life Assessment (LQL
Externí odkaz:
https://doaj.org/article/62e552a7e89a4b10948f4b6e02f8d8ca
Autor:
Ashish Kataria, Madan Gowda, Brian Paul Lamphron, Kabir Jalal, Rocco C. Venuto, Aijaz A. Gundroo
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-5 (2019)
Abstract Background Increased morbidity and mortality are well documented in Status 7(inactive list) patients. Delays in transplantation secondary to prolonged periods on inactive status also negatively impacts transplant outcomes. We developed an ef
Externí odkaz:
https://doaj.org/article/0690dd5e11df428bbdbfe565bc5969fa
Autor:
Kenji E. Orii, Kabir Jalal, Toshiyuki Fukao, Seiji Yamaguchi, Molly Stapleton, Hironori Kobayashi, Amy Barczykowski, Randy L. Carter, Shunji Tomatsu, Thomas J. Langan
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 35-42 (2020)
JIMD Reports
JIMD Reports
Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200bb3f079b29b27c813753a5cced040
https://doaj.org/article/cc419e1a9be84711aacdc66fabfc4e7d
https://doaj.org/article/cc419e1a9be84711aacdc66fabfc4e7d
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-9 (2019)
BMC Nephrology
BMC Nephrology
Background The International Classification of Diseases (ICD) coding system is the industry standard tool for billing, disease classification, and epidemiology purposes. However, ICD codes are often not assigned or incorrectly given, particularly amo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f47a8dd27f4ce4c853a0811f22e178
http://link.springer.com/article/10.1186/s12882-019-1429-4
http://link.springer.com/article/10.1186/s12882-019-1429-4
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy
Autor:
Randy L. Carter, Thomas J. Langan, Kabir Jalal, Laura Sherwood, Joanne Kurtzberg, Amy Barczykowski, Heather B. Allewelt
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 47-54 (2019)
JIMD Reports
JIMD Reports
Objectives To develop a quality of life (QOL) survey for Krabbe disease (KD), and to thereby improve understanding of its phenotypic expression and response to treatment. Methods The survey, the Leukodystrophy Quality of Life Assessment (LQLA) and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a94f548f5be8551425bca08c045a26f4
https://doaj.org/article/62e552a7e89a4b10948f4b6e02f8d8ca
https://doaj.org/article/62e552a7e89a4b10948f4b6e02f8d8ca
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
To use national mortality and state death certificate records to estimate disease specific mortality rates among pediatric and adult populations for 23 leukodystrophies (LDs) with pediatric forms. Additionally, to calculate yearly prevalence and case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4dd0de1b2794de5a5e55484618d85a
https://pubmed.ncbi.nlm.nih.gov/33960638
https://pubmed.ncbi.nlm.nih.gov/33960638