Author details

Full Name

Donna L Robinson

Affiliation

ORCID

Career Start Year

2001

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34606118	Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.	Muscle and Nerve	2022
33069577	Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.	Molecular Genetics and Metabolism	2020
30691927	Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.	Molecular Genetics and Metabolism	2019
30134351	Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.	Journal of Pediatric Orthopaedics	2018
28726809	Genomic diagnostics within a medically underserved population: efficacy and implications.	Genet Med	2018
29173298	Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.	J Pediatr	2017
26079780	Severe Salt-Losing 3Î²-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.	Journal of Clinical Endocrinology and Metabolism	2015
21815188	Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.	American Journal of Hematology	2011
21820344	Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.	Molecular Genetics and Metabolism	2011
19150606	Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.	Clinical Immunology	2009
17409006	Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.	Molecular Genetics and Metabolism	2007
17522105	Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.	Brain	2007
16468966	Elective liver transplantation for the treatment of classical maple syrup urine disease.	Am J Transplant	2006
16435131	Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.	European Journal of Pediatrics	2006
12704386	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.	Nat Genet	2003
12888982	Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.	American Journal of Medical Genetics, Part C: Seminars in Medical Genetics	2003
12888985	Type I glutaric aciduria, part 1: natural history of 77 patients.	American Journal of Medical Genetics, Part C: Seminars in Medical Genetics	2003
12376931	Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.	American Journal of Medical Genetics	2002
12042535	Diagnosis and treatment of maple syrup disease: a study of 36 patients.	Pediatrics	2002
12964664	Maple syrup disease: a standard of nursing care.	Pediatric nursing	2001