Biomaterial Database

Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report. 2000

H C Lin, and F J Tsai, and W C Shen, and C H Tsai, and C T Peng

Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008279	Magnetic Resonance Imaging	Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.	Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297	Male		Males
D002311	Cardiomyopathy, Dilated	A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.	Cardiomyopathy, Congestive,Congestive Cardiomyopathy,Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1a,Cardiomyopathy, Dilated, Autosomal Recessive,Cardiomyopathy, Dilated, CMD1A,Cardiomyopathy, Dilated, LMNA,Cardiomyopathy, Dilated, With Conduction Defect 1,Cardiomyopathy, Dilated, with Conduction Deffect1,Cardiomyopathy, Familial Idiopathic,Cardiomyopathy, Idiopathic Dilated,Cardiomyopathies, Congestive,Cardiomyopathies, Dilated,Cardiomyopathies, Familial Idiopathic,Cardiomyopathies, Idiopathic Dilated,Congestive Cardiomyopathies,Dilated Cardiomyopathies,Dilated Cardiomyopathies, Idiopathic,Dilated Cardiomyopathy, Idiopathic,Familial Idiopathic Cardiomyopathies,Familial Idiopathic Cardiomyopathy,Idiopathic Cardiomyopathies, Familial,Idiopathic Cardiomyopathy, Familial,Idiopathic Dilated Cardiomyopathies,Idiopathic Dilated Cardiomyopathy
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016537	Gangliosidosis, GM1	An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)	G(M1) Gangliosidosis,Adult GM1 Gangliosidosis,Beta-Galactosidase-1 (GLB1) Deficiency,Beta-Galactosidase-1 Deficiency Disease,Beta-Galactosidosis,GLB1 Deficiency,GM1 Gangliosidosis,GM1-Gangliosidosis, Type I,GM1-Gangliosidosis, Type II,GM1-Gangliosidosis, Type III,Gangliosidosis G(M1),Gangliosidosis GM1,Gangliosidosis GM1 Type 3,Gangliosidosis GM1, Adult,Gangliosidosis GM1, Infantile,Gangliosidosis GM1, Juvenile,Gangliosidosis GM1, Type 1,Gangliosidosis GM1, Type 2,Gangliosidosis GM1, Type 3,Gangliosidosis Generalized GM1, Type 1,Gangliosidosis, Generalized GM1 Type 2,Gangliosidosis, Generalized GM1, Adult Type,Gangliosidosis, Generalized GM1, Chronic Type,Gangliosidosis, Generalized GM1, Infantile Form,Gangliosidosis, Generalized GM1, Juvenile Type,Gangliosidosis, Generalized GM1, Type 1,Gangliosidosis, Generalized GM1, Type 2,Gangliosidosis, Generalized GM1, Type 3,Gangliosidosis, Generalized GM1, Type I,Gangliosidosis, Generalized GM1, Type II,Gangliosidosis, Generalized GM1, Type III,Generalized Gangliosidosis,Type 3 (Adult) GM1 Gangliosidosis,beta Galactosidase 1 Deficiency,beta Galactosidase Deficiency,beta-Galactosidase Deficiency,beta-Galactosidase-1 Deficiency,Beta Galactosidase 1 Deficiency Disease,Beta Galactosidosis,Deficiencies, GLB1,Deficiency, GLB1,Deficiency, beta Galactosidase,Deficiency, beta-Galactosidase,Deficiency, beta-Galactosidase-1,GM1 Gangliosidosis, Adult,GM1 Gangliosidosis, Type I,GM1 Gangliosidosis, Type II,GM1 Gangliosidosis, Type III,GM1-Gangliosidoses, Type I,GM1-Gangliosidoses, Type II,GM1-Gangliosidoses, Type III,Gangliosidosis, Adult GM1,Infantile Gangliosidosis GM1,Juvenile Gangliosidosis GM1,Type I GM1-Gangliosidoses,Type I GM1-Gangliosidosis,Type II GM1-Gangliosidoses,Type II GM1-Gangliosidosis,Type III GM1-Gangliosidoses,Type III GM1-Gangliosidosis
D017809	Fatal Outcome	Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.	Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal

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[GM1 gangliosidosis and dilated cardiomyopathy].

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Late-infantile GM1 gangliosidosis: A case report.

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GM1 gangliosidosis--one case report.

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An autopsy case of infantile GM1 gangliosidosis with adrenal calcification.

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Neuroimaging findings in infantile GM1 gangliosidosis.

January 2006, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society,

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Infantile GM1 gangliosidosis: an easy diagnosis.

January 1977, Acta paediatrica Belgica,

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Infantile GM1-gangliosidosis with marked manifestation of lungs.

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