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Differential
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acid maltase deficiency
cardiomyopathy
children
congenital myopathy
differential diagnosis
distal muscle atrophy
encephalopathy
encephalopathy, anoxic
encephalopathy, neonatal
enzyme, defect
enzyme, muscle disease
floppy infant
genetic neurologic disorders
glycogen debranching enzyme deficiency
glycogen storage disease
hepatomegaly
hypoglycemia
hypotonia
hypotonia, infants
hypoxic encephalopathy
muscle weakness
muscle weakness, proximal
myopathy
myotonia congenita
neurologic evaluation
newborn, evaluation of
prognosis
review article
short stature
spinal muscular atrophy
workup
Showing articles 0 to 50 of 1433 Next >>

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017

Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
Arch Neurol 59:1395-1402, Haller,R.G.&Vissing,J., 2002

Acute Compartment Syndrome After Forearm Ischemic Work Test in a Patient with McArdle's Disease
Neurol 56:1779-1780, Lindner,A.,et al, 2001

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,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

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992

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

Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

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

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978

The Ultrastructure of the Sural Nerve in Pompe's Disease
Ann Neurol 2:111, Goebel,H.H.,et al, 1977

The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977

Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
Neurol 100:344-348, Chishimba,L.C.,et al, 2023

New Onset Focal Tremor in Patient with Human Immunodeficienccy Virus
Clin Infect Dis 75:1861-1863, Finelli,P.F., 2022

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Toward Simpler, Safer Treatment of Cryptococcal Meningitis
NEJM 386:1179-1181, Moosa, M.Y.S. & Lessells, R.J., 2022

Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021

An Unexpected Response to Therapy in a Patient with HIV and Focal Seizures
Neurol 97:1084-1089, Chishimba, L.,et al, 2021

Clinicopathologic Conference, Acute human immunodeficiency virus type 1
NEJM 385:641-648, Case 24-2021, 2021

HIV Infection - Screening, Diagnosis, and Treatment
NEJM 384:2131-2143, Saag, M.S., 2021

An Unusual Cause of Sciatica in an Immunocompromised Patient
BMJ 372:n632, Kumar Singh, R., 2021

Trends of Tuberculosis Case Detection, Mortality and Co-Infection with HIV in Ghana: A Retrospective Cohort Study
PLOSONE 15:e0234878, Osel, E.,et al, 2020

Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020

Clinicopathologic Conference, HIV Type 2 Infection & Cerebral Toxoplasmosis
NEJM 383:859-866, Case 27-2020, 2020

Clinicopathologic conference, Cryptococcal meningoencephalitis and advanced HIV infection
NEJM 383:2572-2580, Case 40-2020, 2020

Toxoplasmosis in HIV-Infected Patients
www.UptoDate.com, May, Gandhi, R.T., 2019

Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019

Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018

Gummatous Neurosyphilis
Neurol 90:e913-e914, Silva, H.S.,et al, 2018

A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018

A 48-year-old woman with confusion, personality change, and multiple enhancing brain lesions
Neurol 90:e1724-e1729, Hills, J.M.,et al, 2018

Trypanosoma cruzi Reactivation in the Brain
NEJM 378:1824, Sacks, C.A.,et al, 2018

Presentation of Diffuse Large B-Cell Lymphoma with Bilateral Sequential Oculomotor Neuropathy
Neurol 91;e92-e93, Galla, K.M.,et al, 2018

Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018

Spinal Coccidioidomycosis: MR Imaging Findings in 41 Patients
AJNR 39:2148-2153, Crete, R.N.,et al, 2018

Progressive Gait Difficulty and Incontinence in a 40-year-old Man with HIV
Neurol 91:1065-1070, Silverman, A.,et al, 2018



Showing articles 0 to 50 of 1433 Next >>