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
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
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
"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
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
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
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
The Ultrastructure of the Sural Nerve in Pompe's Disease
Ann Neurol 2:111, Goebel,H.H.,et al, 1977
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Severe Hippocampal Atrophy in a Patient with Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy
JAMA Neurol 80:642-643, Bartels,F.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Clinicopathologic Conference, Pernicious Anemia (Vitamin B12 Deficiency)
NEJM 380:665-674, Case 5-2019, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Diseases of the Nervous System Caused by Nutritional Deficiency, Pellagra (Niacin, Nicotinic Acid, B3 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1170, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Folate (B9 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 2013
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013
Association Between Maternal Use of Folic Acid Supplements and Risk of Autism Spectrum Disorders in Children
JAMA 309:570-577, Suren, P.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Effects of Fetal Antiepileptic Drug Exposure
Neurol 78:1207-1214, Meador,K.J.,et al, 2012
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Folic acid supplementation prevents phenytoin-induced gingival overgrowth in children
Neurol 76:1338-1343, Arya, R.,et al, 2011
Serum vitamin B12 and Folate Status in Patients with Inflammaotry Bowel Diseases
Eur J Med 21:320-323, Yakut, M.,et al, 2010
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Cognitive Function at 3 Years of Age After Fetal Exposure to Antiepileptic Drugs
NEJM 360:1597-1605,1667, Meador,K.J.,et al, 2009
Reduction in Neural-Tube Defects After Folic Acid Fortification in Canada
NEJM 357:135-142, De Wals,P.,et al, 2007
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Folate, Vitamin B12, and Risk of Ischemic and Hemorrhagic Stroke
Stroke 36:1426-1431, Guelpen,B.V.,et al, 2005
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Acquired Haemophilia A May be Associated with Clopidogrel
BMJ 329:323, Haj,M.,et al, 2004
Pernicious Anemia with Neuropsychiatric Dysfunction in a Patient with Sickle Cell Anemia Treated with Folate Supplementation
NEJM 348:2204-2207, Dhar,M.,et al, 2003
Mutations in the Molybdenum Cofactor Biosynthetic Genes MOCS1, MOCS2, and GEPH
Hum Mutat 21:569-576, Reiss,J. &Johnson,J.L., 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Symptoms of B12 Deficiency Can Occur in Women of Child Bearing Age Supplemented with Folate
Neurol 58:1572-1573, Drazkowski,J.,et al, 2002