Chromatographic screening for cystinuria among newborns

[The hypercholesterolemias in pregnancy: their etiology and diagnostic significance considerations].

Ceska gynekologie·2018

Moderate hyperhomocysteinemia in patients treated for epilepsy.

Prague medical report·2006

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

Bratislavske lekarske listy·2005

Genetic determinants of folate status in Central Bohemia.

Physiological research·2004

Complete proteinogram of cerebrospinal fluid and its contribution to the diagnostics of inflammatory and autoimmune diseases of the central nervous system.

Sbornik lekarsky·2003

[Homocysteinemia and ovariectomy--initial experience with functional monitoring].

Ceska gynekologie·2003

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Journal of inherited metabolic disease·2026

Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant.

Molecular biology reports·2026

Anesthetic Management of a Pediatric Patient With Carnitine Deficiency: A Case Report.

A&A practice·2026

The importance of early diagnosis of congenital torticollis: a five-year retrospective study at a tertiary centre.

Medicinski glasnik : official publication of the Medical Association of Zenica-Doboj Canton, Bosnia and Herzegovina·2026

Post-surgical Pyoderma Gangrenosum Following Elective Aesthetic Procedures: A Case Series of 10 Patients and a Multidisciplinary Treatment Approach.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India·2026

Optimized ensemble learning framework for neonatal asphyxia prediction using perinatal clinical features.

Frontiers in public health·2026

Systemic immune-inflammation index as a risk factor for acute kidney injury in patients with neonatal jaundice.

Translational pediatrics·2026

Related Experiment Videos

Chromatographic screening for cystinuria among newborns

Related Concept Videos

[The hypercholesterolemias in pregnancy: their etiology and diagnostic significance considerations].

Moderate hyperhomocysteinemia in patients treated for epilepsy.

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

Genetic determinants of folate status in Central Bohemia.

Complete proteinogram of cerebrospinal fluid and its contribution to the diagnostics of inflammatory and autoimmune diseases of the central nervous system.

[Homocysteinemia and ovariectomy--initial experience with functional monitoring].

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant.

Anesthetic Management of a Pediatric Patient With Carnitine Deficiency: A Case Report.

The importance of early diagnosis of congenital torticollis: a five-year retrospective study at a tertiary centre.

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Chromatographic screening for cystinuria among newborns

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