[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy]

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

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

GALNS gene expression profiling in Morquio A patients' fibroblasts.

Clinica chimica acta; international journal of clinical chemistry·2008

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Annals of human genetics·2007

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

Association between low-carbohydrate diet scores and macrovascular events or all-cause mortality in adults with type 1 diabetes in Japan.

Journal of diabetes investigation·2026

Duration of breastfeeding and early childhood growth: sex- and race-specific trajectories in a nationally representative birth cohort.

The British journal of nutrition·2026

Metabolic Changes During a Calorie-Restricted, Fish-Rich Ketogenic Diet Associated With Increased Circulating TMAO in Healthy Adults.

Endocrinology, diabetes & metabolism·2026

Dietary anthocyanins as multifunctional bioactives targeting obesity across experimental and clinical models.

Food & function·2026

Correction: Lawson et al. Assessing Performance of Contemporary Plant-Based Diets Against the UK Dietary Guidelines: Findings from the Feeding the Future (FEED) Study. Nutrients 2024, 16, 1336.

Nutrients·2026

Is There a Relationship Between the Gut Microbiome and the Functional Capabilities of Skeletal Muscle? A Narrative Review.

Nutrients·2026

Related Experiment Videos

[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy]

Related Concept Videos

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.

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.

GALNS gene expression profiling in Morquio A patients' fibroblasts.

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

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.

Association between low-carbohydrate diet scores and macrovascular events or all-cause mortality in adults with type 1 diabetes in Japan.

Duration of breastfeeding and early childhood growth: sex- and race-specific trajectories in a nationally representative birth cohort.

Metabolic Changes During a Calorie-Restricted, Fish-Rich Ketogenic Diet Associated With Increased Circulating TMAO in Healthy Adults.

Dietary anthocyanins as multifunctional bioactives targeting obesity across experimental and clinical models.

Correction: Lawson et al. Assessing Performance of Contemporary Plant-Based Diets Against the UK Dietary Guidelines: Findings from the Feeding the Future (FEED) Study. Nutrients 2024, 16, 1336.

Is There a Relationship Between the Gut Microbiome and the Functional Capabilities of Skeletal Muscle? A Narrative Review.

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[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy]

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