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Differential
(Click to cross reference)
anemia, megaloblastic
B 12 deficiency
blood dyscrasias, neurologic findings with
transcobalamin II, abnormal
transcobalamin II, hereditary absence of
Showing articles 0 to 50 of 13030 Next >>

Studies Of A Patient With Megaloblastic Anemia & An Abnormal Transcobalamin II
NEJM 303:1209-1212, Seligman,P.A.,et al, 1980

A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021

Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Brain Magnetic Resonance Imaging in 23 Patients with Mucopolysaccharidoses and the Effect of Bone Marrow Transplantation
Ann Neurol 50:79-92, Seto,T.,et al, 2001

Mucopolysaccharidosis III (Sanfilippo Syndrome) Type B:Cranial Imaging in Two Cases
J Comput Assist Tomogr 21:897-899, Petitti,N.,et al, 1997

Human T-Cell Lymphotrophic Virus Type II-Associated Myelopathy:Clinical and Immunologic Profiles
Ann Neurol 40:714-723, Lenky,T.J.,et al, 1996

Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

Central Nervous System Lesions in Adult Liver Transplant Recipients:Clinical Review with Implications for Management
Medicine 73:110-118, Singh,N.,et al, 1994

Spastic Ataxia Associated with Human T-Cell Lymphotropic Virus Type II Infection
Ann Neurol 33:411-414, Harrington,W.J.,et al, 1993

Isolation of HTLV-II from Pt with Chronic, Prog Neurol Dis Clin Indistinguish from HAM/Tropical Spastic Paraparesis
Ann Neurol 33:392-396, Jacobson,S.,et al, 1993

Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977

Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977

Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972

Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972

The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971

Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964

Atypical Presentation of HLA-B51 Positive Neuro-Bechet Disease in a 27-Year-Old Patient, The Waterfall Sign
Neurol 104:e210257, AbuAlrob,M.A., 2025

Rocky Mountain Spotted Fever Encephalitis and "Starry Sky" Pattern on MRI, A Case Report
Neurologist 30:34-38, Mikhaiel,J.P.,et al, 2025

Spectrum of Intracranial Hemorrhages in Cerebral Venous Thrombosis, A Pictorial Case Series and Review of Pathophysiology and Management
Neurologist 30:45-51, Jha,S.,et al, 2025

A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

Benign Enhancing Foramen Magnum Lesions
Neurol 103:e210083, Kogue,R.,et al, 2024

Multiple Contrast Enhancing Subdural Lesions
BMJ 387:e079362, Liu,J. & Sun,Z., 2024

Occipital Condyle Syndrome
Neurol 103:e210067, Mirian,A.,et al, 2024

"Panda Sign" in West Nile Encephalitis
Neurol 103:e209985, Watson,C.C.,et al, 2024

Diagnosis of Incident Cancer After Cryptogenic Stroke
Neurol 103:e210027, Navi,B.B.,et al, 2024

Isolated Primary Central Nervous System Lymphoma of the Optic Nerve, A Case Report and Review of the Literature
Neurologist 29:351-355, Keertana,J.,et al, 2024



Showing articles 0 to 50 of 13030 Next >>