Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
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
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
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
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987
A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
NEJM 310:1630-1634, Brushlow,S.W.,et al, 1984
Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
JAMA Neurol 82:193-199, Terrim,S.,et al, 2025
Inebilizumab for Treatment of IgG4-Related Disease
NEJM 392:1168-1177, Stone,J.H.,et al, 2025
Beyond Glucocorticoids for IgG4-Related Disease
NEJM 392:1232-1233, Spiera,R., 2025
Progress Toward Mitigating Disability Progression in Multiple Sclerosis
NEJM 392:1966-1968, Calabresi,P.A., 2025
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,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
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Clinicopathologic Conference,Acquired Thrombotic Thrombocytopenic Purpura
NEJM 389:1804-1811, Case 34-2023, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
IgG4-Related Orbital Inflammation
https://EyeWiki.org, Oct, Chelnis,J. & Gervasio,K.A., 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
A 51-Year-Old Woman with Diplopia and Headache
Neurol 99:524-530, Kathuria, G.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Cases with IgG4-related Ophthalmic Disease with Mass Lesions Surrounding the Optic Nerve
Am J Ophthalmol 25:101324, Hamaoka, S.,t al, 2022
Neurobrucellosis:The Great Mimicker
Rev Soc Bras Med Trop 55:e0567-e2012, Soares,C.N.,et al, 2022
Bitots Spots, Dry Eyes, and Night Blindness Indicate Vitamin A Deficiency
Lancet 397:e2, Chakraborty, U. & Chandra, A., 2021
Clinicopathologic Conference, Systemic Primary Amyloidosis
NEJM 384:363-372, Case 3-2021, 2021