A Clinical Study of Noonan Syndrome
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Melas Syndrome
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Hearing and Vision Loss in an Older Man
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Pontine Tegmental Cap Dysplasia in a Neonate
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Profound Deafness in Childhood
NEJM 363:1438-1450, Kral,A.,et al, 2010
Metabolic Disease and Stroke: MELAS
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Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Neuroradiographic Findings in Newborn Period & Outcome in Children with Sympt Congen CMV Infection
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial DNA and Disease
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TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Progressive Hearing Loss in Infants with Asymptomatic Congenital Cytomegalovirus Infection
Pediatrics 90:862-866, Williamson,W.D.,et al, 1992
Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
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Cogan's Syndrome:18 Cases & a Review of the Literature
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
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Chronic Progressive Panencephalitis due to Rubella Virus Simulating Subacute Sclerosing Panencephalitis
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