Search Results for: Deficiency of aromatic-L-amino-acid decarboxylase/

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aromatic L-amino acid decarboxylase deficiency

NORD Rare Disease Report

Aromatic L-Amino Acid Decarboxylase Deficiency

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orotic aciduria

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deafness, aminoglycoside-induced

Rare Disease Video

Aromatic L-Amino Acid Decarboxylase Deficiency

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GABA aminotransaminase deficiency

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aminoacylase 1 deficiency

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ornithine aminotransferase deficiency

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multiple acyl-CoA dehydrogenase deficiency

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primary hyperoxaluria type 1

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aminopterin/methotrexate embryofetopathy

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methylmalonic aciduria and homocystinuria type cblD

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GRACILE syndrome

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hyperdibasic aminoaciduria type 1

NORD Rare Disease Report

Deficiencia de L-aminoácido aromático decarboxilasa

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lysinuric protein intolerance

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methylmalonic aciduria, cblA type

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2-aminoadipic 2-oxoadipic aciduria

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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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3-methylglutaconic aciduria type 1

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congenital bile acid synthesis defect 4

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mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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methylmalonic aciduria and homocystinuria type cblC

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methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

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pyruvate dehydrogenase E1-alpha deficiency

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