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Differential
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abdominal distention

acoustic nerve

advances in neurology

aggression

agitation

alcohol intoxication

alcoholic withdrawal states, DT's, convulsions, etc.

aminoacylase 1 deficiency

anticoagulant, treatment

attention deficit disorder with hyperactivity

autism

autonomic dysfunction

BAL

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basophilic stippling of red blood cells

bath salts, psychoactive

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bifid uvula

biotin

biotin deficiency

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bismuth

body odor

bone marrow suppression

burn injury

calcification, intracranial

calcium oxalate crystals

Canavan's disease

cardiomegaly

cardiomyopathy

carnitine deficiency myopathy

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cerebral venous thrombosis

cerebrospinal fluid, elevated protein of

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chromosomal abnormality

Clinical Pathologic Conference(C.P.C.)

clubbing of fingers

cocaine

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coenzyme Q10 deficiency

congenital deformities

congenital myopathy

cornea, abnormal

cortical vein thrombosis

cranial nerve palsies

creatine phosphokinase(CPK)elevated

creatinine, elevated

cultured skin fibroblasts

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developmental retardation

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drug induced neurologic disorders

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electroconvulsive therapy

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fingernails, abnormal

gastrointestinal bleeding

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Guthrie test

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hearing problems in children

heavy metal intoxication

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homocystinuria

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inborn errors of metabolism

inclusion body myositis

intellectual deficit, treatable causes of

intellectual deterioration

intelligence quotient

internuclear ophthalmoplegia, bilateral

ischemic exercise test

isopropyl alcohol

jaw contractures

karyotyping

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ketoacidosis

ketonuria

klippel feil syndrome

lactic acidemia

lactic dehydrogenase(LDH)

language disorders in children

lead poisoning

leg weakness, bilateral

leukocyte enzyme abnormality

leukodystrophy

leukoencephalopathy

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leukopenia

levamisole

level of consciousness, decreased

level of consciousness, decreased acute

lipid storage disorder of CNS

liver disease

liver function enzymes

liver transplantation

Lowe's syndrome

lysosomal storage disease

macrocephaly

malignant hyperpyrexia

maple syrup urine disease

marfanoid skeletal abnormalities

mental status, abnormal

mental status, abnormal, acute

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

methcathinone

midline defect in children

misdiagnosis

mitochondrial disease

molecular genetics

mortality

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MRI

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MRI, demyelinating disease

MRI, diffusion weighted

mucopolysaccharidoses

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muscle atrophy, static

muscle biopsy

muscle cramp

muscle pain

muscle phosphofructokinase deficiency

muscle phosphorylase deficiency

muscle stiffness

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muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, Duchenne

myopathy, drug-induced

myopathy, metabolic

myopathy, mitochondrial

nerve conduction studies

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neurologic complications of, surgery

neurologic disease, diagnoses of

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neurologic signs

neurologic testing

neuromuscular disease, electrodiagnosis of

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ophthalmoplegia, neonatal

opisthotonus

optic atrophy

ornithine transcarbamylase deficiency

osteoarthrosis

osteoporosis

pain, leg

palatopharyngeal incompetence

Parkinsonism syndrome

peripheral blood smear

peripheral blood smear, abnormal

personality change

phenylketonuria

phenylketonuria, adult onset

phosphorylase b kinase deficiency

pleocytosis of cerebrospinal fluid

pleural effusion

polyneuropathy

position sensation, abnormal

practice guidelines

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive neurologic disorder

proprioception, abnormal

proteinuria

proximal muscle atrophy

psychiatric problems in neurologic disorders

psychological testing, neurologic problems

psychomotor retardation

pyridoxine deficiency

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

sclerae, hyperpigmented

screaming

second wind phenomena

seizure

seizure, advice to parents and teachers regarding

seizure, children

seizure, neonatal

seizure, psychosocial aspects of

seizure, pyridoxine dependent

seizure, treatment of

self harm

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

skin, biopsy

skin, lesions in neurologic disorders

skin, pink

speech disorder, childhood

spina bifida

spondylolysis

spongy degeneration of brain

steroid therapy, CNS treatment and complications with

stimulant drugs

stool, guaiac positive

sweating, abnormality of

sympathomimetic drugs

toxins, nervous system

treatment of neurologic disorder

tremor

tremulousness

urea-cycle enzymopathies

urine test for metabolic disorders

urine test in toxic screen

weakness, generalized

weakness, progressive

weight loss

white matter disease

x-linked mental retardation

Showing articles 0 to 50 of 17305 Next >>

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021

Cocaine and Levamisole Cerebral Toxicity
Ann Neurol 89:1253-1254, Allard, J.,et al, 2021

Bismuth Neurotoxicity from Use of Topical Bismuth Dressing for Burns
Neurol 92:680-681, Saini, V.,et al, 2019

Clinicopathologic Conference, Ingestion of Isopropyl Alcohol
NEJM 380:1657-1665, Case 13-2019, 2019

A Case of Acute Encephalopathy and Rigidity in a 30-Year-Old Man
Neurol 93:759-763, Hurtubise, B. & MacLellan, A., 2019

Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016

Clinicopathologic Conference, Ethylene Glycol Ingestion
NEJM 372:465-473, Case 4-2015, 2015

The Acquired Metabolic Disorders of the Nervous System, Hypernatremia
Adams & Victors Principles of Neurology Chp 40, pg 1148, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
Adams & Victors Principles of Neurology, Chp 37, pg 953, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Clinicopathologic Conference, Methcathinone (Bath Salts) Intoxication
NEJM 369:2536-2545, Case 40-2013, 2013

Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012

Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007

Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005

Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005

Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
NEJM 324:364-369, 4111991., Haller,R.G.&Lewis,S.F., 1991

Progressive Neuropathy & Recurrent Myoglobinuria in a Child with Long-chain 3-Hydroxyacylcoenzyme A Dehydrogenase Defic
J Pediatr 118:744-746, Dionisi,C.,et al, 1991

Cranial Nerve Deficit:A Clue to the Diagnosis of Ethylene Glycol Poisoning
Am J Med 87:91-92, Palmer,B.F.,et al, 1989

Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988

McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988

Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985

Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
NEJM 313:16-19, 43-441985., Wolf,B.,et al, 1985

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985

Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984

Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982

Detection of Phenylketonuria in Autistic & Psychotic Children
JAMA 243:126-128, Lowe,T.L.,et al, 1980

Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978

Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977

Possible Pathophysiology of Neurologic Abnormalities assoc. with Nonketotic hyperglycinemia
NEJM 294:1295, Ramson,B.R., 1976

Newborn Metabolic Screening:Past & Prospect
NEJM 293:824, Levy,H., 1975

Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974

Specificity of the Urine Inhibitor Test for Leigh's Disease
Neurol 24:885, Pincus,J.H.,et al, 1974

Pediatric Neurology
Psych Annals 2:1, , 1972

New Kind of PKU
Pediatrics Consultant Sept 1971, pp 68-70., Johnson,C., 1971

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966

Showing articles 0 to 50 of 17305 Next >>