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613 Questions
Xanthomas are a feature of all the following EXCEPT
Medicine
2022-09-12
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The specific clue to the diagnosis of fatty acid oxidation disorders maybethe finding of hypoglycemia and
Medicine
2022-09-12
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The MOST common presentation of mitochondrial B-oxidation of fatty acids disorders is
Medicine
2022-09-12
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The MOST common initial manifestation of X-linked adrenoleukodystrophy (ALD)is
Medicine
2022-09-12
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The normally functioning organ in Hutchinson-Gilford progeria syndrome (progeria) is
Medicine
2022-09-12
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The diagnostic assay of Zellweger syndrome is by elevated level of
Medicine
2022-09-12
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All the following are characteristic features of infantile Refsum disease EXCEPT
Medicine
2022-09-12
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All the following are features of neonatal adrenoleukodystrophy (ALD) EXCEPT
Medicine
2022-09-12
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All the following are clinical abnormalities of Zellweger syndrome EXCEPT
Medicine
2022-09-12
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140
The MOST common presentation of primary carnitine deficiency is
Medicine
2022-09-12
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143
A 3-year-old boy presented to emergency unit at 10:00 AM with history of difficult arousal from sleep,
Medicine
2022-09-12
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All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT
Medicine
2022-09-12
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Smith LemIi-Opitz Syndrome (SLOS) is characterized by all the following EXCEPT
Medicine
2022-09-12
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613
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