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Publications by Nenad Blau
Issues With European Guidelines for Phenylketonuria – Authors' Reply
The Lancet Diabetes and Endocrinology
Internal Medicine
Endocrinology
Metabolism
Diabetes
Mildly Compromised Tetrahydrobiopterin Cofactor Biosynthesis Due to PTS Variants Leads to Unusual Body Fat Distribution and Abdominal Obesity in Mice
Journal of Inherited Metabolic Disease
Genetics
Tetrahydrobiopterin Responsiveness in Phenylketonuria: Prediction With the 48-Hour Loading Test and Genotype
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Failure to Thrive and Nephrolithiasis in a Boy With Congenital Cyanotic Heart Anomaly—questions
Pediatric Nephrology
Child Health
Pediatrics
Perinatology
Nephrology
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
A Milk-Free Diet Downregulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome
Developmental Medicine and Child Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
Defining Tetrahydrobiopterin (BH4)-responsiveness in PKU
Journal of Inherited Metabolic Disease
Genetics
Hyperprolactinemia, a Tool in Treatment Control of Tetrahydrobiopterin Deficiency: Endocrine Studies in an Affected Girl
Pediatric Research
Child Health
Pediatrics
Perinatology
Tetrahydrobiopterin-Responsive Hyperphenylalaninaemia Due to Homozygous Mutations in the Phenylalanine Hydroxylase Gene
European Journal of Pediatrics
Child Health
Pediatrics
Perinatology
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