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Indian Pediatrics 2017-Jun

An Indian Family with Tyrosine Hydroxylase Deficiency.

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Jyotindra Narayan Goswami
Naveen Sankhyan
Pratibha D Singhi

关键词

抽象

BACKGROUND

Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.

UNASSIGNED

An Indian family with the disorder.

METHODS

Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.

UNASSIGNED

Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.

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