Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
Lancet 374:1986-1996, 1950, Mehta,A.,et al, 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Enzyme Replacement Therapy Improves Function of C-, Adelta-, and Abeta- Nerve Fibers in Fabry Neuropathy
Neurol 62:1066-1072, Hilz,M.J.,et al, 2004
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Enzyme Replacement Therapy in Fabry Disease
JAMA 285:2743-2749, Schiffmann,R.,et al, 2001
Neurogene Therapy for the 21st Century
Arch Neurol 57:54, Brady,R.O., 2000
Loss of Vision in Gaucher's Disease and Its Reversal by Enzyme-Replacement Therapy
NEJM 338:1471-1472, vom Dahl,S.,et al, 1998
Infection of Collagenase in the Treatment of Herniated Lumbar Disk
JAMA 245:730-732, Sussman,B.J.,et al, 1981
Enzyme Treatment of Spinal Cord Transected Rats
Ann Neurol 5:203-206, Feringa,E.R.,et al, 1979
Lidase Treatment of Spinal Cord Transected Rats
Ann Neurol 6:78-79, Kowalski,T.F.,et al, 1979
Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Progress Toward Mitigating Disability Progression in Multiple Sclerosis
NEJM 392:1966-1968, Calabresi,P.A., 2025
Lentiviral Gene Therapy for Cerebral adrenoleukodystrophy
NEJM 391:1302-1312,1358, Eichler,F.,et al, 2024
Cerebrovascular Events in Patients Undergoing Transcatheter Aortic Valve Replacement:A Review
Stroke 55:2754-2764, Patel,K.P.,et al, 2024
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
Clinicopathologic Conference, Reversible Cerebral Vasoconstriction Syndrome with Takotsubo Cardiomyopathy
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Risk of Stroke in Women Using Levonorgestrel-Releasing Intrauterine Device for Contraception
Stroke 55:1830-1837, Letnar,G.,et al, 2024
Parkinsons Disease
NEJM 391:442-452, Tanner,C.M. & Ostrem,J.L., 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
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Association of Assisted Reproductive Technology and Stroke During Hospitalization for Delivery in the United States
Stroke 55:999-1005, Dicpinigaitis,A.J.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference,Acquired Thrombotic Thrombocytopenic Purpura
NEJM 389:1804-1811, Case 34-2023, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
Lentiviral Haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
Lancet 399:372-383, Fumagalli, F.,et al, 2022
Does Capturing Debris During TAVR Prevent Strokes?
NEJM 387:1318-1319, Carroll, J.D. & Saver, J.L., 2022
Oral Contraceptives, Hormone Replacement Therapy, and Stroke Risk
Stroke 53:3107-3115, Johansson, T.et al, 2022
Neurobrucellosis:The Great Mimicker
Rev Soc Bras Med Trop 55:e0567-e2012, Soares,C.N.,et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinicopathologic Conference, Seizure from Neurocysticercosis
NEJM 385:1894-1902, Case 34-2021, 2021
Drugs Associated with Ischemic Stroke
Stroke 52:e646-e659, Marto, J.P.,et al, 2021
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Clinicopathologic Conference, Systemic Primary Amyloidosis
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A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Cerebral Venous Thrombosis and Hypercoagulability Associated with In Vitro Fertilization
Stroke 52:e554-e557, Farooqui A.B.,et al, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020