Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
Arch Pediatr Adolesc Med 150:589-592, Obefield,S.E.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Craniopharyngyoma in Children
In Brain Tumors in Children, W B Saunders Co, Phila, Neurologic Clinics 9:453-46591., Sanford,R.A.&Muhbauer,S., 1991
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
Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
NEJM 311:920-921, Brauner,R.,et al, 1984
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
Germinoma of third Ventricle (Case Record of MGH)
NEJM 293:653, Locke,S.,et al, 1975