Phenylketonuria

Large neutral amino acids supplementation in phenylketonuric patients

Mental Retardation / Humans / Blood brain barrier / Phenylketonuria / Dietary Supplements / Clinical Sciences / Long Term Study / Clinical Sciences / Long Term Study

Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Polymorphism / Molecular Genetics / Molecular Epidemiology / Portugal / Humans / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase

Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Polymorphism / Molecular Genetics / Molecular Epidemiology / Portugal / Humans / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase

Biopterin responsive phenylalanine hydroxylase deficiency

Genetics / Adolescent / Humans / Child / Female / Phenylketonuria / Male / Infant / Enzyme / Clinical Sciences / Pilot study / Spectrum / Adult / Phenylalanine / Autosomal Recessive / Phenylalanine hydroxylase / Tyrosine / Phenylketonuria / Male / Infant / Enzyme / Clinical Sciences / Pilot study / Spectrum / Adult / Phenylalanine / Autosomal Recessive / Phenylalanine hydroxylase / Tyrosine

Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria

Food / Diet / Molecular Genetics / Adolescent / Ghrelin / Motivation / Humans / Child / Insulin / Female / Phenylketonuria / Male / Young Adult / Clinical Sciences / Amino Acids / Adult / Amino Acid Profile / Pain Measurement / Motivation / Humans / Child / Insulin / Female / Phenylketonuria / Male / Young Adult / Clinical Sciences / Amino Acids / Adult / Amino Acid Profile / Pain Measurement

Biopterin responsive phenylalanine hydroxylase deficiency

Genetics / Adolescent / Humans / Child / Female / Phenylketonuria / Male / Infant / Enzyme / Clinical Sciences / Pilot study / Spectrum / Adult / Phenylalanine / Autosomal Recessive / Phenylalanine hydroxylase / Tyrosine / Phenylketonuria / Male / Infant / Enzyme / Clinical Sciences / Pilot study / Spectrum / Adult / Phenylalanine / Autosomal Recessive / Phenylalanine hydroxylase / Tyrosine

Cranial MR spectroscopy of tetrahydrobiopterin deficiency

Intelligence / Creatine / Magnetic Resonance Spectroscopy / Antioxidants / Brain / Humans / Child / MR spectroscopy / Inborn errors of metabolism / Phenylketonuria / Inositol / D-Aspartic Acid / Clinical Sciences / White matter / Seizures / Intelligence quotient / Choline / Lactic Acid / Mr Imaging / Early Diagnosis / Neurosciences / Image Features / Humans / Child / MR spectroscopy / Inborn errors of metabolism / Phenylketonuria / Inositol / D-Aspartic Acid / Clinical Sciences / White matter / Seizures / Intelligence quotient / Choline / Lactic Acid / Mr Imaging / Early Diagnosis / Neurosciences / Image Features

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