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Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment

Folia biologica, 2019-01, Vol.65 (3), p.152-157

2019

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Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

Human molecular genetics, 2012-04, Vol.21 (7), p.1534-1543

2012

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Rheumatology (Oxford, England), 2018-07, Vol.57 (7), p.1180-1185

2018

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Preparation of 5‐amino‐4‐imidazole‐N‐succinocarboxamide ribotide, 5‐amino‐4‐imidazole‐N‐succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.493-499

2005

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Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Human molecular genetics, 2000-06, Vol.9 (10), p.1501-1513

2000

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Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.145-154

2003

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Ammonia mediates communication between yeast colonies

Nature (London), 1997-12, Vol.390 (6659), p.532-536

1997

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Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families

The Journal of pediatrics, 2007, Vol.150 (1), p.57-61.e2

2007

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Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Preparation of 5‐amino‐4‐imidazole‐N‐succinocarboxamide ribotide, 5‐amino‐4‐imidazole‐N‐succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

Ammonia mediates communication between yeast colonies

Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families

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