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biotinidase deficiency/vómito
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7 resultados
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].
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OBJECTIVE
To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome.
METHODS
Six patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic
Epilepsy in biotinidase deficiency after biotin treatment.
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Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most
Etiology and outcome of inborn errors of metabolism.
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OBJECTIVE
To study the clinical presentation, diagnostic workup and outcome of children presenting with suspected inborn errors of metabolism.
METHODS
The cross-sectional study was conducted at the Shifa International Hospital, Islamabad, and included all patients diagnosed with the condition
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation].
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OBJECTIVE
To investigate the values of tandem mass spectrometry (MS/MS) in etiologic diagnosis and understanding therapeutic effect in cerebral developmental retardation, and to help patients in early diagnosis, treatment and favorable prognosis.
METHODS
One hundred and fifty-eight childhood
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].
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OBJECTIVE
Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder. MCD is characterized by skin rash, metabolic acidosis, vomiting and psychomotor retardation. Depending on deficiency of the enzyme, MCD includes two different forms, biotinidase deficiency (BTD, OMIM 253260) and
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
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The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at the age of 13 and 18 months with ketotic hypoglycaemia, vomiting and progressive loss of
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
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Holocarboxylase synthetase (HCS) is responsible for the biotinylation of pyruvate carboxylase, propionyl coenzyme A (CoA) carboxylase, beta-methylcrotonoyl CoA carboxylase, and acetyl CoA carboxylase. We report on a patient with HCS deficiency resulting in a rare metabolic disease. The patient, a
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