Literature DB >> 29813145

Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening.

Patrick V Hopkins1, Tracy Klug1, Lacey Vermette1, Julie Raburn-Miller2, Jami Kiesling2, Sharmini Rogers2.   

Abstract

Mesh：

Year:  2018        PMID： 29813145      PMCID： PMC6137509          DOI： 10.1001/jamapediatrics.2018.0263

Source DB:  PubMed          Journal:  JAMA Pediatr        ISSN： 2168-6203            Impact factor:   16.193


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  4 in total

Review 1.  Newborn screening for lysosomal storage disorders.

Authors:  Dietrich Matern; Dimitar Gavrilov; Devin Oglesbee; Kimiyo Raymond; Piero Rinaldo; Silvia Tortorelli
Journal:  Semin Perinatol       Date:  2015-04-16       Impact factor: 3.300

2.  Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.

Authors:  Patrick V Hopkins; Carlene Campbell; Tracy Klug; Sharmini Rogers; Julie Raburn-Miller; Jami Kiesling
Journal:  J Pediatr       Date:  2014-10-18       Impact factor: 4.406

3.  Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

Authors:  Barbara K Burton; Joel Charrow; George E Hoganson; Darrell Waggoner; Brad Tinkle; Stephen R Braddock; Michael Schneider; Dorothy K Grange; Claudia Nash; Heather Shryock; Rebecca Barnett; Rong Shao; Khaja Basheeruddin; George Dizikes
Journal:  J Pediatr       Date:  2017-07-17       Impact factor: 4.406

4.  Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Authors:  Ramakrishna S Sista; Tong Wang; Ning Wu; Carrie Graham; Allen Eckhardt; Theodore Winger; Vijay Srinivasan; Deeksha Bali; David S Millington; Vamsee K Pamula
Journal:  Clin Chim Acta       Date:  2013-05-07       Impact factor: 3.786
  4 in total
  11 in total

Review 1.  Newborn screening of mucopolysaccharidoses: past, present, and future.

Authors:  Nivethitha Arunkumar; Thomas J Langan; Molly Stapleton; Francyne Kubaski; Robert W Mason; Rajendra Singh; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji Orii; Tadao Orii; Toshiyuki Fukao; Shunji Tomatsu
Journal:  J Hum Genet       Date:  2020-04-10       Impact factor: 3.172

2.  Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.

Authors:  Nivethitha Arunkumar; Dung Chi Vu; Shaukat Khan; Hironori Kobayashi; Thi Bich Ngoc Can; Tsubasa Oguni; Jun Watanabe; Misa Tanaka; Seiji Yamaguchi; Takeshi Taketani; Yasuhiko Ago; Hidenori Ohnishi; Sampurna Saikia; José V Álvarez; Shunji Tomatsu
Journal:  Diagnostics (Basel)       Date:  2021-07-27

3.  Association Between Discrimination Stress and Suicidality in Preadolescent Children.

Authors:  Stirling T Argabright; Elina Visoki; Tyler M Moore; Dallas T Ryan; Grace E DiDomenico; Wanjikũ F M Njoroge; Jerome H Taylor; Sinan Guloksuz; Ruben C Gur; Raquel E Gur; Tami D Benton; Ran Barzilay
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2021-08-20       Impact factor: 13.113

4.  Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.

Authors:  Richard Sam; Emory Ryan; Emily Daykin; Ellen Sidransky
Journal:  Expert Opin Pharmacother       Date:  2021-03-25       Impact factor: 4.103

5.  Lessons Learned from Pompe Disease Newborn Screening and Follow-up.

Authors:  Tracy L Klug; Lori B Swartz; Jon Washburn; Candice Brannen; Jami L Kiesling
Journal:  Int J Neonatal Screen       Date:  2020-02-14

6.  Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

Authors:  Barbara K Burton; Joel Charrow; George E Hoganson; Julie Fleischer; Dorothy K Grange; Stephen R Braddock; Lauren Hitchins; Rachel Hickey; Katherine M Christensen; Daniel Groepper; Heather Shryock; Pamela Smith; Rong Shao; Khaja Basheeruddin
Journal:  Int J Neonatal Screen       Date:  2020-01-21

Review 7.  The rapidly evolving view of lysosomal storage diseases.

Authors:  Giancarlo Parenti; Diego L Medina; Andrea Ballabio
Journal:  EMBO Mol Med       Date:  2021-01-18       Impact factor: 12.137

Review 8.  Epidemiology of Mucopolysaccharidoses Update.

Authors:  Betul Çelik; Saori C Tomatsu; Shunji Tomatsu; Shaukat A Khan
Journal:  Diagnostics (Basel)       Date:  2021-02-10

9.  Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Authors:  Marina Dutra-Clarke; Daisy Tapia; Emily Curtin; Dennis Rünger; Grace K Lee; Anita Lakatos; Zyza Alandy-Dy; Linda Freedkin; Kathy Hall; Nesrin Ercelen; Jousef Alandy-Dy; Margaret Knight; Madeleine Pahl; Dawn Lombardo; Virginia Kimonis
Journal:  Mol Genet Metab Rep       Date:  2020-12-31

10.  Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.

Authors:  Thomas J Langan; Kabir Jalal; Amy L Barczykowski; Randy L Carter; Molly Stapleton; Kenji Orii; Toshiyuki Fukao; Hironori Kobayashi; Seiji Yamaguchi; Shunji Tomatsu
Journal:  JIMD Rep       Date:  2020-02-10
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