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Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis

Molecules (Basel, Switzerland), 2023-06, Vol.28 (13), p.4916

2023

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Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Journal of medical genetics, 2018-04, Vol.55 (4), p.249-253

2018

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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100673-100673, Article 100673

2020

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Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies

Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.123-136

2021

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Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

JIMD reports, 2020-09, Vol.55 (1), p.59-67

2020

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Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter

Monatsschrift Kinderheilkunde, 2024-07, Vol.172 (7), p.587-594

2024

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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

Genetics in medicine, 2019-03, Vol.21 (3), p.580-590

2019

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REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107423, Article 107423

2023

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PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE (PAH) MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107422, Article 107422

2023

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Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108476-108476, Article 108476

2024

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THE DDC LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.276-276

2022

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THE LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.276

2022

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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook

Molecular genetics and metabolism, 2019-05, Vol.127 (1), p.12-22

2019

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Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations

Molecular genetics and metabolism, 2022-12, Vol.137 (4), p.359-381

2022

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Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation

Molecular genetics and metabolism, 2024-09, Vol.143 (1-2), p.108571, Article 108571

2024

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Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108464-108464, Article 108464

2024

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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

American journal of human genetics, 2019-05, Vol.104 (5), p.835-846

2019

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Phenylketonuria Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo [sup.1]H-NMR Analysis

Molecules (Basel, Switzerland), 2023-06, Vol.28 (13)

2023

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Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.86-95

2018

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Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape

Molecular genetics and metabolism, 2024-07, Vol.142 (3), p.108514, Article 108514

2024

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Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches

Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107610-107610, Article 107610

2023

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Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

NMR in biomedicine, 2023-04, Vol.36 (4), p.e4853-n/a

2023

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Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

The Journal of biological chemistry, 2021-01, Vol.296, p.100433-100433, Article 100433

2021

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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature

Molecular genetics and metabolism, 2022-08, Vol.136 (4), p.274-281

2022

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PREVALENCE OF  VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107421, Article 107421

2023

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Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?

PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE (PAH) MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

THE DDC LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY

THE LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Phenylketonuria Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo [sup.1]H-NMR Analysis

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches

Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature

PREVALENCE OF  VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY

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