A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Clinicopathologic Conference, AA Amyloidosis, Complicated by Cerebral Mucormycosis
NEJM 382:1457-1466, Case 11-2020, 2020
Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984
Clinicopath Conf, Chronic Salicylate Toxicity
NEJM 388:264-272, Case Record 2, 2023
Clinicopathologic Conference, Ingestion of Isopropyl Alcohol
NEJM 380:1657-1665, Case 13-2019, 2019
Clinical Features, Diagnosis, and Treatment of Disseminated Intravascular Coagulation in Adults
UptoDate, Leung, L.L.K., 2015
A Syndrome of Bilateral Symmetrical Basal Ganglia Lesions in Diabetic Dialysis Patients
Am J Kidney Dis 63: 286-288, Finelli, P.F. & Singh, J.U., 2014
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Bilateral Basal Ganglia Lesions in Patients with End-Stage Diabetic Nephropathy
Nephrology 13:68-72, Li, J.,et al, 2008
Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,et al, 2003
Confusion After Antibiotics
Lancet 357:1410, Gavazzi,C.,et al, 2001
Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988
Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 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