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Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
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Prader-Willi and Angelman Syndromes
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
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Chronic Hydrocephalus Associated with Short Stature & Growth Hormone Deficiency
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Germinoma of third Ventricle (Case Record of MGH)
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 40-Year-Old Woman Presenting with Distal Leg Weakness
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Short Stature, Imperforate Anus, and Polydactyly
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Extraintestinal Manifestations of Coeliac Disease
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
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Dopamine-Responsive Dystonia
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A Floppy Child with Failure to Thrive
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Clinicopath Conf., MELAS Syndrome
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Mitochondrial Respiratory-Chain Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
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Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
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Mitochondrial DNA and Disease
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Accelerated Aging of the Brain in Werner's Syndrome
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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MELAS Syndrome Involving a Mother & Two Children
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Child Abuse as a Cause of Post-Traumatic Hypopituitarism
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Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
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Kearns-Sayre Syndrome with Hypoparathyroidism
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Kearns-Sayre Syndrome & Hypoparathyroidism
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Familial Hypopituitarism with Large Sella Turcica
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