[Report on a case of hypertyrosinemia and tyrosinuria]

Evaluation of the cephalometrics modification of growing Class II Division I patients after treatment with the PUL appliance: a pilot study.

Minerva stomatologica·2013

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Biochimica et biophysica acta·2009

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Journal of neurology·2009

Different biological behaviour of Waldenström Macroglobulinemia in two dogs.

Veterinary and comparative oncology·2009

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Journal of pharmaceutical and biomedical analysis·2009

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.

Journal of inherited metabolic disease·2008

Developmental and behavioral profile in a domestic adoptees sample: a new challenge for the pediatrician.

Minerva pediatrica·2020

A new approach to the diagnosis of short stature.

Minerva pediatrica·2020

Kounis Syndrome: a pediatric perspective.

Minerva pediatrica·2020

Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane.

Minerva pediatrica·2020

Tall stature in children and adolescents.

Minerva pediatrica·2020

Precocious puberty.

Minerva pediatrica·2020

Hirschsprung's disease and a rare mutation of the PIGO gene: Mabry syndrome.

The Turkish journal of pediatrics·2026

Wünderlich syndrome mimicking acute cholecystitis: a case report.

Journal of surgical case reports·2026

Multimodality imaging localization of a giant functional parathyroid adenoma in a young fitness trainer with delayed recognition of hypercalcemia: A case report.

Radiology case reports·2026

Silent pheochromocytoma presenting as refractory hyperglycemia without classic adrenergic symptoms.

JCEM case reports·2026

Parsonage-turner syndrome: a pulmonologist's guide to the forgotten diaphragm.

Current opinion in pulmonary medicine·2026

Pheochromocytoma presenting with hyperosmolar hyperglycemic state and transient stroke-like deficits.

JCEM case reports·2026

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[Report on a case of hypertyrosinemia and tyrosinuria]

Related Concept Videos

Evaluation of the cephalometrics modification of growing Class II Division I patients after treatment with the PUL appliance: a pilot study.

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Different biological behaviour of Waldenström Macroglobulinemia in two dogs.

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.

Developmental and behavioral profile in a domestic adoptees sample: a new challenge for the pediatrician.

A new approach to the diagnosis of short stature.

Kounis Syndrome: a pediatric perspective.

Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane.

Tall stature in children and adolescents.

Precocious puberty.

Hirschsprung's disease and a rare mutation of the PIGO gene: Mabry syndrome.

Wünderlich syndrome mimicking acute cholecystitis: a case report.

Multimodality imaging localization of a giant functional parathyroid adenoma in a young fitness trainer with delayed recognition of hypercalcemia: A case report.

Silent pheochromocytoma presenting as refractory hyperglycemia without classic adrenergic symptoms.

Parsonage-turner syndrome: a pulmonologist's guide to the forgotten diaphragm.

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[Report on a case of hypertyrosinemia and tyrosinuria]

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