Neudle.com: inborn errors of metabolism screening

Differential
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abdominal protrusion

abscess, intracerebral

abulia

aceruloplasminemia

acetazolamide

acid maltase deficiency

aciduria

acrocyanosis

acromicria

acute intermittant porphyria

acyl CoA dehydrogenase deficiency

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult polyglucosan body disease

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

agenesis of corpus callosum

alternating hemiplegia

alternating hemiplegia of childhood

alveolar hypoventilation

Alzheimer's disease

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, preclinical

Alzheimer's disease, risk factors in

Alzheimer's disease, visual variant

aminoacidopathies

aminoacidurias

aminoacylase 1 deficiency

ammonia

amniocentesis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, differential diagnosis

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, misdiagnosis

anemia

anesthesia, general

aneurysm, intracranial

anterior horn cell disease

antibiotic prophylaxis

anticonvulsants

anticonvulsants, selection of

anxiety

aphasia

aphasia, progressive, primary

aphasia, transcortical

aphasia, transcortical-sensory

apolipoprotein E

APP gene

apraxia

apraxia, constructional

arachnodactyly

areflexia

arm weakness

aromatic amino acid decarboxylase deficiency

arrhythmia, cardiac

arteriopathy

arteriovenous malformation

arteriovenous malformation, cerebral

arteriovenous malformation, multiple

arteriovenous malformation, pulmonary

arthralgia

aspiration

aspirin

asymmetric crying facies

asymptomatic

ataxia

ataxia telangiectasia

ataxic-dystonia syndromes

atrioventricular block

attention deficit disorder with hyperactivity

atypical

auditory evoked brainstem potentials

autism

autism, screening for

autistic behavior

autoantibodies

autoimmune basal ganglia encephalitis

autoimmune disease

automobile accidents

autonomic dysfunction

autonomic nervous system

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

biotin deficiency, juvenile form

blood dyscrasias, neurologic findings with

body odor

bone biopsy

bone marrow transplantation

bone pain

bone scanning

brachial neuritis

brachial neuritis, acute

brachial neuritis, bilateral

brachial plexus neuropathy

brachial plexus neuropathy, bilateral

brachial plexus neuropathy, familial

brachial plexus neuropathy, recurrent

brain biopsy, negative

brain biopsy, stereotaxic

calcification, intracranial

calcification, muscle

calcium oxalate crystals

calf atrophy

calf hypertrophy

cane

carbamyl phosphate synthetase-I deficiency

carcinoma

cardiomyopathy

cardiovascular disease

CAT scan, emission, abnormal

CAT scan, isodense lesion with acute hemorrhage

cataracts

cataracts, congenital

catecholamine

caudate nucleus, atrophy

caudate nucleus, lesion of

central nervous system, infection of

cerebellar ataxia, autosomal recessive

cerebellar ataxia, hereditary

cerebellar ataxia, neuropathy and vestibular areflexia syndrome

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemorrhage

cerebellar lesion

cerebellar vermis

cerebellum, disease of

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortex

cerebral cortical atrophy

cerebral embolism

cerebral embolism, cardiac origin

cerebral embolism, carotid origin

cerebral infarction

cerebral infarction, subcortical

cerebral palsy

cerebral palsy, etiology

cerebral palsy, work up

cerebral peduncle

cerebral vasculature, calcification

cerebral venous thrombosis

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, enzymes in

cerebrospinal fluid, glycine

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, proteincytologic dissociation

cerebrospinal fluid, red cells in

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, cardiac disease causing

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, mimics

cerebrovascular accident, misdiagnosis

cerebrovascular accident, multiple

cerebrovascular accident, neonatal

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, nonvascular territory

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

cerebrovascular disease

cherry red spot-myoclonus syndrome

chest x-ray, abnormal

chromosomal abnormality

cingulate island sign

cirrhosis

cirrhosis, infancy

Clinical Pathologic Conference(C.P.C.)

cobalamin C deficiency

color vision, impaired

congenital birth defects

congenital heart disease

congenital malformation

congenital myasthenic syndromes

controversies in neurology

copper deficiency

cornea

cornea, abnormal

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

corpus callosum

corpus callosum, atrophy of

corpus callosum, hypoplastic

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cortical blindness, transient

cost effectiveness

cough

C-reactive protein, elevated

creatine phosphokinase(CPK)elevated

creatinine, elevated

Cree leukoencephalopathy

Creutzfeldt-Jakob disease, genetic

cry, abnormal

cryopyrin-associated periodic syndrome

Cuba

cultured skin fibroblasts

cyst, neoplastic cerebellum

cyst, parenchymal

cystinuria

cytomegalovirus infection

D-dimer

deep gray nuclei

deep tendon reflexes

degenerative diseases of CNS

Dejerine-Sottas syndrome

dementia, age at onset

dementia, childhood

dementia, diagnostic evaluation of

dementia, differential diagnosis of

dementia, familial

dementia, frontal lobe type

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, reversible

dementia, subcortical

dementia, treatment of

demyelinating disease

dental procedure, neurologic complications with

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

dermatitis

descending paralysis

developmental disability

developmental evaluation

developmental milestones

developmental milestones, loss of

developmental retardation

dexterity, impaired

diabetes mellitus

diagnostic criteria

diamond on quadriceps

diarrhea

diet

differential diagnosis

difficulty climbing stairs

disability, neurological

disorientation

distal muscle atrophy

distal muscle weakness

diurnal variation

dizziness

DNA probes

dopa responsive dystonia

down-beat nystagmus

downward deviation of eyes

dropped head syndrome

drug induced neurologic disorders

dystonia, etiology of

dystonia, painful

dystonic reaction, acute

dystrophin

ear, abnormal

ears of the Lynx MR sign

echocardiogram

eczema

edema, pedal

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

electroencephalogram, inflammatory disease

electroencephalogram, monitoring, continuous

electroencephalogram, periodic complexes

electroencephalogram, video monitoring with

electromyogram

electron microscopy

electrophoretic pattern, serum

electroretinograph

embolism

embolism, paradoxical

emergencies, neurologic

Emery-Dreifuss muscular dystrophy

emotional lability

employment

encephalitis

encephalitis, autoimmune

encephalopathy

encephalopathy, metabolic

encephalopathy, neonatal

encephalopathy, progressive

endocarditis, prophylaxis

endolymphatic sac tumors

enzyme treatment

enzyme, defect

enzyme, muscle disease

epicanthal folds

epidemiology of neurology

epileptic encephalopathy

episodic disorders

episodic neurologic deficits

ethylmalonic aciduria

ethylmalonic encephalopathy

evidence-based research

executive dysfunction

eye movement, disorders of

Fabry's disease

face, elongated

facial anomalies

facial appearance, abnormal

facial asymmetry

facial hypoplasia

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

fatty acid dehydrogenase deficiency

fatty acid, elevated plasma content

fibrinolytic agents, contraindications

fibroma, ungual

fine motor function, impaired

finger nose finger test

finger tapping

fingers, abnormal

fistula, arterio-venous, pulmonary

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontal balding

frontal bossing

frontotemporal dementia, behavioral variant

fucosidosis

fundus, abnormality of

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

GFAP gene

globoid cells

globus pallidus

globus pallidus, infarction

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose level, serum

glucose tolerance test, abnormal

GLUT1 deficiency syndrome

glutaric acidemia

glutaric aciduria

glycine

glycogen storage disease

Hallervorden Spatz disease

hallucination

hallucination, visual

hearing loss, bilateral

hearing loss, sudden, unilateral

hearing problems in children

hemianopia, homonymous

hemianopia, transient

hemiparesis, transient

hemiplegia

hemorrhoids

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

hepatosplenomegaly

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

Huntington's chorea, genetic counselling

Huntington's chorea, late onset

Huntington's chorea, misdiagnosis of

Huntington's chorea, presymptomatic detection of

Huntington's chorea, sporadic form

Huntington's disease, children

Hurler's syndrome

hydrocephalus

hydronephrosis

hydroxyglutaric aciduria

hydroxyurea

hyperactivity

hyperammonemic encephalopathy

hyperglycinemia, nonketotic

hyperhomocysteinemia

hyperpigmentation of skin

hyperreflexia

hypertension

hypertonia

hypertrophic intracranial pachymeningitis

hypogonadism, hypogonadotropic

hypopigmentation of skin

hyporeflexia

hyposmia

hypotelorism

hypotension, neurologic causes of

hypotension, systemic

hypoxic-ischemic leukoencephalopathy

implantable cardioverter defibrillator

impulsivity

inappropriate behavior

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

incoordination

infantile spasm

infection

inflexibility, mental

insulin resistance

intellectual deficit

intellectual deterioration

intelligence quotient

internal capsule

internet

internuclear ophthalmoplegia, bilateral

intracerebral hemorrhage

intracranial pressure, increased

intranasal medication

intraventricular hemorrhage

intrinsic hand muscles, wasting of

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

Korsakoff's psychosis

Krabbe's disease

KRIT1 gene

kyphoscoliosis, neurologic causes of

learning disability, in children

Leber's hereditary optic neuropathy

leg spasms

leg spasms, painful

leg weakness, bilateral

Legius syndrome

Leigh's disease

Leigh's disease, adult variety

leucine-rich repeat kinase 2 gene

leukocyte enzyme abnormality

leukocytosis

leukodystrophy

leukoencephalopathy

leukoencephalopathy with calcification and cysts

leukoencephalopathy, hereditary diffuse

level of consciousness, decreased

lid closure, weakness of

life expectancy

limb-girdle weakness

linear lesion

lipid storage disorder of CNS

livedo reticularis

liver biopsy

liver disease

liver function enzymes

lysosomal storage disease

macrocephaly

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

manganese intoxication

mania

manic-depressive

maple syrup urine disease

marche a petits pas

Marcus Gunn pupil

masked facies

masseter muscle weakness

meconium staining

medical-legal aspects of neurology

medulla oblongata

medulla oblongata, atrophy

medulla oblongata, lesion of

medulla oblongata, neoplasm of

melanomatosis, primary malignant

MELAS syndrome

memory, defect of recent

memory, impairment of

meningitis

meningitis, aseptic

meningitis, basilar

meningitis, carcinomatous

meningitis, CSF cell count-normal

meningitis, leptospira

meningoencephalitis

mental retardation

mental retardation, familial

mental status, abnormal

MERRF syndrome

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

methylglutaconic aciduria

methylmalonic acidemia

Mexican

microangiopathy, brain

microcephaly

microdontia

microhemorrhage, intracerebral

microspherophakia

midbrain, infarction of

midbrain, lesion of

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

migraine

mimics

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

mitral valve prolapse

molecular genetics

molybdenum cofactor deficiency

monoclonal antibodies

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, demyelinating disease

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, eye of tiger sign

MRI, false negative

MRI, FLAIR

MRI, gradient-echo

MRI, high signal foci on

MRI, high signal intensity of basal ganglia

MRI, hypointense signal foci on

MRI, muscle

MRI, negative

MRI, optic nerve

MRI, paramagnetic effect

MRI, spinal cord, increased intramedullary cord signal

MRI, spine

MRI, susceptibility weighted

MRI, T1 weighted high signal foci

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle atrophy, focal

muscle atrophy, progressive

muscle biopsy

muscle cramp

muscle pain

muscle phosphofructokinase deficiency

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, classification

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

muscular dystrophy, pattern of muscle involvement

mutism

myasthenia gravis

myasthenia gravis, congenital

myasthenia gravis, familial incidence of

myasthenia gravis, misdiagnosis of

myasthenia gravis, seronegative

myasthenia gravis, treatment of

myelin protein zero gene

myelomalacia

myeloneuropathy

myelopathy

myelopathy, chronic progressive

myeloproliferative disorder

myoclonic encephalopathy of infancy

myoclonus, stimulus sensitive

myopathy, inclusion body

myopathy, inclusion body with Paget's disease

myopathy, metabolic

myopathy, mitochondrial

myotonia dystrophica, classification

myotonia dystrophica, type 2

neonatal epilepsy syndromes

neonatal epileptic encephalopathy

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, metastatic to CNS-differential diagnosis of

neoplasm, peripheral nerve

neoplasm, primary intracerebral, presenting as CVA

neoplasm, primary intracranial

neoplasm, primary of CNS

nephritis

nephrocalcinosis

nerve biopsy

nerve conduction studies

nerve hypertrophy

nerve root enhancement

nerve root hypertrophy

neuroaxonal leukodystrophy

neuroblastoma

neurocutaneous disease

neurodegeneration with brain iron accumulation

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic disease, tempo

neurologic evaluation

neurologic examination

neurologic examination, focal

neurologic practice

neurologic signs

neurologic testing

neuromuscular junction

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronal migration disorder

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, classification of

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, painful

neuropathy, peripheral

neuropathy, work up for

neurotomy

neurotransmitter

next-generation sequencing

Notch3 gene, false negative

numbness, extremity

nusinersen

nystagmus

nystagmus, gaze-evoked

nystagmus, monocular

nystagmus, rotary

nystagmus, vertical

obsessive-compulsive disorder

occipital lobe, infarction

occipital lobe, lesion of

ochronosis

ocular motility, disorders of

oculodentodigital dysplasia

oculogyric crisis

old age, neurology of

omeprazole

ophthalmoplegia

ophthalmoplegia, neonatal

ophthalmoplegia, progressive external

opisthotonus

optic ataxia

optic atrophy

optic atrophy, bilateral

optic chiasm, enlarged

optic disc edema

optic nerve, compression of

optic nerve, enhancement

optic nerve, enlarged

optic nerve, lesion of

optic neuritis

optic neuritis, bilateral

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

optical coherence tomography

ornithine transcarbamylase deficiency

orthostatic hypotension

pacemaker, cardiac-transvenous

pain, increased response

paraparesis, familial spastic

paraparesis, familial spastic, classification

paresthesias, lower extremity

Parkinson disease

Parkinson disease, atypical

Parkinson disease, dystonia with

Parkinson disease, familial

Parkinson disease, juvenile

Parkinsonism syndrome

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

past pointing

patient in waiting

patient information and support

pectus excavatum

Pelizaeus Merzbacher

percussion induced muscle contraction

peripheral nerve, lesion of

phenylketonuria, adult onset

phenylketonuria, maternal

platelet inhibiting drugs

pleocytosis of cerebrospinal fluid

poison, neurologic problems with

POLG1 gene

POLR3B

polycythemia, primary

polycythemia, secondary

polyglucosan body

polyglucosan body disease

polymerase chain reaction

polymerase chain reaction, false negative

polymerase chain reaction, false positive

polyneuropathy

Pompe's disease of glycogen storage

pons, lesion of

porphyria

portal caval shunt

posterior cerebral artery territory infarction

posterior cortical atrophy

posterior fossa, lesion of

posterior leukoencephalopathy syndrome

precipitating factors

preclinical

pregnancy, neurologic complications in

premature infant

prenatal diagnosis by amniocentesis

presenilin-1 gene

presenilin-2 gene

prevention of neurologic disorders

primary episodic ataxia

primary familial brain calcification

primary thrombocythemia

progressive myoclonic epilepsy

progressive neurologic disorder

prolactin, elevated

proprioception, abnormal

protein 14-3-3, cerebrospinal fluid

protein S deficiency

proteinuria

proton pump inhibitors

proximal muscle atrophy

proximal myotonic myopathy

pseudobulbar palsy

pseudohypoparathyroidism

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychological testing, neurologic problems

psychomotor retardation

pulmonary hypertension

pupil

pupil, dilated and fixed, bilateral

pupil, dilated, bilateral

pupil, dilated, episodic

putamen, lesion of

pyramidal tract

pyramidal tract dysfunction

pyridoxine

pyridoxine deficiency

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriparesis, progressive

quadriplegia

quadriplegia, transient

radiculopathy

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

rash

reaction time

real-time quaking-induced conversion

respiratory tract infection

reversible neurologic disorder

review article

Reye's syndrome

Reye's syndrome, prognosis of

RFC1 gene

RFLPs

rhabdomyolysis

rhabdomyosarcoma of heart

riboflavin

rigidity

risk factors

risk-benefit assessment

saccadic eye movements, abnormal

sclerae, hyperpigmented

sclerosis, bone

scoliosis

scoliosis, neurologic association with

seizure, complications following

seizure, diagnosis of

seizure, psychomotor-temporal lobe

seizure, pyridoxine dependent

seizure, teenager

seizure, treatment of

seizure, workup of

self harm

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

sensory loss

sensory loss, leg

seronegative

serum lipase, elevated

shagreen patch

short stature

shoulder, pain in

shoulder-girdle wasting

simian crease

simultanagnosia

sinemet

single photon emission computed tomography

Sjogren-Larsson syndrome

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

skull bone, thickening

slit lamp examination

small vessel disease

small vessel disease, cerebral

SMN1 gene

SNCA duplication

somnolence

Southern immunoblot test

spastic ataxia

spastic diplegia

spastic paraplegia, type 11

spasticity

speech disorder

speech disorder, childhood

speech, delayed development of

speech, loss of

spinal cord

spinal cord, compression of

spinal cord, lesion of

spinal cord, neoplasm

spinal muscular atrophy

spinal muscular atrophy, classification

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 2

spinocerebellar ataxia type 28

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 7

spinocerebellar degeneration

spirochete infection

splenomegaly

spondylolysis

spontaneous remission

stem cell transplantation

steppage gait

stereotyped behavior

steroid therapy, CNS treatment and complications with

stiff legs

stress, emotional

striatal encephalitis

striatonigral degeneration

striatonigral degeneration, infantile

striatum, lesion of

striopallidodentate calcifications, familial idiopathic

strokelike episodes

stuporous

subarachnoid hemorrhage

sulfite oxidase deficiency

superior sagittal sinus thrombosis

sweating, abnormality of

symmetric brain lesions

teeth, number of in infants

telangiectases

temporal lobe, atrophy

temporal lobe, lesion

temporal lobe, lesion, bilateral

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

term infant

testicular atrophy

testicular enlargement

tetrahydrobiopterin

thalamus, lesion of

thalamus, lesion of-bilateral

tissue plasminogen activator, intravenous

tongue, fasciculations of

tonic foot response

transient ischemic attack

transient neurologic deficit

transketolase

transverse smile

travel, foreign

treatment of neurologic disorder

trinucleotide repeats

tripping

tuberin

tuberous sclerosis

tuberous sclerosis, screening for

tumor suppressor gene

tyrosine

tyrosine hydroxylase deficiency

tyrosinemia

ultrasonography

ultrasonography, nerve

uncal herniation

unconsciousness

unconsciousness, transient

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

urea

urea-cycle enzymopathies

urine test for metabolic disorders

venous thrombosis, non-cerebral

ventricular garlands

vertigo

vestibular areflexia

vibratory sensation, abnormal

violent behavior

viral infection, CNS

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity, decreased

visual acuity, decreased, monocular

visual field defect

visual impairment

visual loss

visual loss, progressive

visual loss, slow

visuospatial disturbance

vitamin deficiency

vitamin E deficiency

Von Hippel Lindau

Von Hippel Lindau, screening protocol for

von Hippel-Lindau, screening

walking, difficulty with

walking, difficulty with in dark

weakness, generalized

weakness, progressive

weakness, proximal

weakness, rapidly progressive

web sites

weight loss

Wernicke's encephalopathy

wheelchair

whistle, inability to

white matter disease

white matter disease, subcortical

white matter disease, unilateral

wide based gait

winging of scapula

Wood's light

word-finding difficulty

workup

writing

X-linked bulbospinal neuronopathy

x-linked hydrocephalus

x-linked intellectual deficit

x-linked mental retardation

Showing articles 200 to 250 of 769 << Previous Next >>

Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994

Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994

CAG Repeat Size and Clinical Presentation in Huntington's Disease
Neurol 44:1137-1143, Ashizawa,T.,et al, 1994

A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993

Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993

Reye's Syndrome 30 Years On, Possible Marker of Inherited Metabolic Disorders
BMJ 307:950-951, Glasgow,J.F.T.&Moore,R., 1993

Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

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

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
Neurol 39:847-848, Kolodny,E.H., 1989

Agenesis of the Corpus Callosum and Gyral Malformations are Frequent Manifestations of Nonketotic Hyperglycinemia
Neurol 39:817-820, Dobyns,W.B., 1989

Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989

Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989

The Reversible Dementias:Do They Reverse?
Ann Int Med 109:476-486, Clarfield,A.M., 1988

Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988

Inborn Errors of Metabolism in Children Referred with Reye's Syndrome, A Changing Pattern
JAMA 260:3167-3170, 3178-31801988., Rowe,P.C.,et al, 1988

Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987

A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987

Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 1986

Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986

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

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984

Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984

Lafora Disease:Liver Histopathology in Presymptomatic Children
Ann Neurol 14:86-89, Baumann,R.J.,et al, 1983

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

Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981

Brainstem Auditory Evoked Response in the Diagnosis of Pediatric Neurologic Diseases
Neurol 31:832-840, Hecox,K.E.,et al, 1981

Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
Arch Neurol 37:634-636, Weiss,G.M.,et al, 1980

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

Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,et al, 1977

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

Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
NEJM 295:62, Blass,J.P.,et al, 1976

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

Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 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

Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965

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