Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Wilson Disease
NIDDK Oct2018, , 2018
Inherited Metabolic Diseases of the Nervous System, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Neurodevelopmental Outcome of Term Infants with Intraventricular Hemorrhage
Am J Dis Child 146:194-197, Jocelyn,L.J.&Casiro,O.G., 1992
Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
Pediatrics 89:768-770, Labrune,P.H.,et al, 1992
Clinical & Biochemical Aspects of Trichopoliodystrophy
Ann Neurol 5:65-71, Grover,W.D.,et al, 1979
Clinical Features, Diagnosis, and Treatment of Disseminated Intravascular Coagulation in Adults
UptoDate, Leung, L.L.K., 2015
The Acquired Metabolic Disorders of the Nervous System, Hepatic Stupor and Coma (Hepatic, or Portal-Systemic Encephalopathy)
Adams & Victors Principles of Neurology Chp 40, pg 1142, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Hyperbilirubinemia in Preterm Infants and Neurodevelopmental Outcome at 2 Years of Age
Pediatrics 83:915-920, 1062-10651989., vandeBor,M.,et al, 1989