No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP Synthetase Complexes / deficiency
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ATP Synthetase Complexes / genetics*
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ATPase Inhibitory Protein
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Acidosis / genetics*
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Acidosis / metabolism
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Acidosis / pathology
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Cardiomegaly / genetics*
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Cardiomegaly / metabolism
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Cardiomegaly / pathology
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Child
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Consanguinity
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DNA Mutational Analysis
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Female
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Fetal Growth Retardation / genetics*
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Fetal Growth Retardation / metabolism
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Fetal Growth Retardation / pathology
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Glutarates / metabolism*
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H(+)-K(+)-Exchanging ATPase / deficiency
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H(+)-K(+)-Exchanging ATPase / genetics
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Heterozygote
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Humans
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Intellectual Disability / genetics*
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Intellectual Disability / metabolism
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Intellectual Disability / pathology
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Male
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Membrane Proteins / deficiency
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Membrane Proteins / genetics*
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Mitochondrial Proteins / deficiency
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Mitochondrial Proteins / genetics*
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Proteins / genetics
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Proteins / metabolism
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Sequence Deletion
Substances
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Glutarates
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Membrane Proteins
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Mitochondrial Proteins
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Proteins
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TMEM70 protein, human
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3-methylglutaconic acid
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ATP Synthetase Complexes
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ATP12A protein, human
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H(+)-K(+)-Exchanging ATPase