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Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1970 openaire +1 more source
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American Journal of Diseases of Children, 1963
More than 20 instances of maple syrup urine disease (MSUD) have been described since 1954. Most were infants, who manifested in the first month of life a maple syrup odor in their urine and a clinical pattern of fits, episodic rigidity, lethargy, and poor suck. When measured, their blood and urine levels were found to be elevated for the branched-chain
N C, WOODY, C D, HANCOCK
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More than 20 instances of maple syrup urine disease (MSUD) have been described since 1954. Most were infants, who manifested in the first month of life a maple syrup odor in their urine and a clinical pattern of fits, episodic rigidity, lethargy, and poor suck. When measured, their blood and urine levels were found to be elevated for the branched-chain
N C, WOODY, C D, HANCOCK
openaire +3 more sources
1995
Maple syrup urine (MSUD) is a heterogeneous disorder. Classification is based on clinical presentation and outcome. Clinically, four phenotypes can be distinguished: classical, intermediate, intermittent and thiamine-responsive forms of MUSD. All forms have an aurosomal recessive mode of inheritance.
Marjo S. van der Knaap, Jacob Valk
openaire +1 more source
Maple syrup urine (MSUD) is a heterogeneous disorder. Classification is based on clinical presentation and outcome. Clinically, four phenotypes can be distinguished: classical, intermediate, intermittent and thiamine-responsive forms of MUSD. All forms have an aurosomal recessive mode of inheritance.
Marjo S. van der Knaap, Jacob Valk
openaire +1 more source
2017
Abstract This chapter discusses maple syrup urine disease, including clinical and biochemical abnormalities, factors to be considered in nutritional evaluation, and dietary treatment.
Rani H. Singh, Teresa D. Douglas
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Abstract This chapter discusses maple syrup urine disease, including clinical and biochemical abnormalities, factors to be considered in nutritional evaluation, and dietary treatment.
Rani H. Singh, Teresa D. Douglas
openaire +2 more sources