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[Some genealogical and biochemical considerations on 3 families with myopathies]. 1969

O Cravcevschi, and V Cravcevschi, and R Guga

UI MeSH Term Description Entries
D009133 Muscular Atrophy Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. Atrophy, Muscle,Neurogenic Muscular Atrophy,Neurotrophic Muscular Atrophy,Atrophies, Muscle,Atrophies, Muscular,Atrophies, Neurogenic Muscular,Atrophies, Neurotrophic Muscular,Atrophy, Muscular,Atrophy, Neurogenic Muscular,Atrophy, Neurotrophic Muscular,Muscle Atrophies,Muscle Atrophy,Muscular Atrophies,Muscular Atrophies, Neurogenic,Muscular Atrophies, Neurotrophic,Muscular Atrophy, Neurogenic,Muscular Atrophy, Neurotrophic,Neurogenic Muscular Atrophies,Neurotrophic Muscular Atrophies
D010667 Phenylpyruvic Acids A group of compounds that are derivatives of phenylpyruvic acid which has the general formula C6H5CH2COCOOH, and is a metabolite of phenylalanine. (From Dorland, 28th ed) Acids, Phenylpyruvic
D010710 Phosphates Inorganic salts of phosphoric acid. Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D011051 Poliomyelitis An acute infectious disease of humans, particularly children, caused by any of three serotypes of human poliovirus (POLIOVIRUS). Usually the infection is limited to the gastrointestinal tract and nasopharynx, and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis, coarse FASCICULATION and hyporeflexia. Motor neurons are primarily affected. Encephalitis may also occur. The virus replicates in the nervous system, and may cause significant neuronal loss, most notably in the spinal cord. A rare related condition, nonpoliovirus poliomyelitis, may result from infections with nonpoliovirus enteroviruses. (From Adams et al., Principles of Neurology, 6th ed, pp764-5) Infantile Paralysis,Polio,Poliomyelitis, Nonpoliovirus,Poliomyelitis, Preparalytic,Encephalitis, Polio,Epidemic Acute Poliomyelitis,Polio Encephalitis,Poliomyelitis Infection,Poliomyelitis, Acute,Acute Poliomyelitis,Acute Poliomyelitis, Epidemic,Infection, Poliomyelitis,Infections, Poliomyelitis,Nonpoliovirus Poliomyelitis,Paralysis, Infantile,Poliomyelitides, Preparalytic,Poliomyelitis Infections,Poliomyelitis, Epidemic Acute,Polios,Preparalytic Poliomyelitis
D001798 Blood Proteins Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins. Blood Protein,Plasma Protein,Plasma Proteins,Serum Protein,Serum Proteins,Protein, Blood,Protein, Plasma,Protein, Serum,Proteins, Blood,Proteins, Plasma,Proteins, Serum
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005690 Galactose An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood. D-Galactose,Galactopyranose,Galactopyranoside,D Galactose
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000469 Alkaline Phosphatase An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.1.
D014443 Tyrosine A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. L-Tyrosine,Tyrosine, L-isomer,para-Tyrosine,L Tyrosine,Tyrosine, L isomer,para Tyrosine

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