Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene

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Dental Management of Genetic Dental Disorders: A Critical Review.

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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Frontiers in genetics·2023

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

Human reproduction (Oxford, England)·2020

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

The British journal of dermatology·2016

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.

JIMD reports·2015

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

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Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

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Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

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Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Proximal Splenorenal Shunt in Non-cirrhotic Portal Hypertension: Our Experience.

Cureus·2026

The Efficiency of Capillarys 2 Flex Piercing, Premier Resolution-HPLC, and VARIANT II-HPLC for Hemoglobin Constant Spring Detection.

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Case Report of Initial Manifestation of Hypogonadotropic Hypogonadism Based on Unoccluded Growth Plates in a 26-Year-Old Vietnamese Patient.

Cureus·2026

Clinical features of hereditary adrenocortical unresponsiveness to adrenocorticotropin (HAUA) in Japan: from a nationwide questionnaire based survey.

Endocrine journal·2026

Gastroduodenal Perforation Secondary to Heterotopic Pancreas in a Patient With Systemic Amyloidosis and End-Stage Renal Disease on Hemodialysis: A Case Report.

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A Case of Convexity Meningioma Presenting With Acute Subdural Hematoma: A Case Report With a Pooled Analysis of 63 Reported Cases.

Cureus·2026

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Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene

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Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

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Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene

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