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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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d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.329-332

2008

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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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Diagnosis, characteristics and treatment of patients with adenylosuccinate lyase deficiency – Polish experience

European journal of paediatric neurology, 2008, Vol.12, p.S64-S64

2008

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Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.286-288

2010

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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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W222 Metabolomic analysis of HeLa cells deficient in purine de novo synthesis

Clinica chimica acta, 2022-05, Vol.530, p.S404-S405

2022

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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 ivase deficiency

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

2005

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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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Static in-situ hydrothermal synthesis of small pore zeolite SSZ-16 (AFX) using heated and pre-aged synthesis mixtures

Microporous and mesoporous materials, 2016-07, Vol.228, p.107-115

2016

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Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer

Nature communications, 2019-11, Vol.10 (1), p.5177-15, Article 5177

2019

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Stochastic Reconstruction of Particulate Media Using Simulated Annealing: Improving Pore Connectivity

Transport in porous media, 2009, Vol.76 (2), p.179-198

2009

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Study of the influence of gel composition in the synthesis of self-supported silicalite-1 layers

Materials letters, 2012-03, Vol.70, p.138-141

2012

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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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Butane isomer separation with composite zeolite MFI mebranes

Desalination, 2009-09, Vol.245 (1), p.437-443

2009

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A route to MFI zeolite-α-alumina composite membranes for separation of light paraffins

Desalination, 2008-04, Vol.224 (1), p.76-80

2008

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Diffusion in Fluid Catalytic Cracking Catalysts on Various Displacement Scales and Its Role in Catalytic Performance

Chemistry of materials, 2005-05, Vol.17 (9), p.2466-2474

2005

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Network modelling of capillary pressure curves, permeability, and diffusivity

Chemical engineering science, 2007-09, Vol.62 (18), p.5117-5122

2007

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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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Pulsed-field gradient nuclear magnetic resonance study of transport properties of fluid catalytic cracking catalysts

Magnetic resonance imaging, 2005-02, Vol.23 (2), p.233-237

2005

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Amino acids control ammonia pulses in yeast colonies

Biochemical and biophysical research communications, 2002-06, Vol.294 (5), p.962-967

2002

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Template removal from polycrystalline silicalite-1 self-supporting layer

Materials chemistry and physics, 2005, Vol.90 (1), p.116-122

2005

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Investigation of sorption and transport of sorbate molecules in crystals of MFI structure type by iodine indicator technique

Microporous and mesoporous materials, 1998-09, Vol.23 (5-6), p.295-308

1998

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

d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

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

Diagnosis, characteristics and treatment of patients with adenylosuccinate lyase deficiency – Polish experience

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP

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

W222 Metabolomic analysis of HeLa cells deficient in purine de novo synthesis

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 ivase deficiency

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

Static in-situ hydrothermal synthesis of small pore zeolite SSZ-16 (AFX) using heated and pre-aged synthesis mixtures

Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer

Stochastic Reconstruction of Particulate Media Using Simulated Annealing: Improving Pore Connectivity

Study of the influence of gel composition in the synthesis of self-supported silicalite-1 layers

Ammonia mediates communication between yeast colonies

Butane isomer separation with composite zeolite MFI mebranes

A route to MFI zeolite-α-alumina composite membranes for separation of light paraffins

Diffusion in Fluid Catalytic Cracking Catalysts on Various Displacement Scales and Its Role in Catalytic Performance

Network modelling of capillary pressure curves, permeability, and diffusivity

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

Pulsed-field gradient nuclear magnetic resonance study of transport properties of fluid catalytic cracking catalysts

Amino acids control ammonia pulses in yeast colonies

Template removal from polycrystalline silicalite-1 self-supporting layer

Investigation of sorption and transport of sorbate molecules in crystals of MFI structure type by iodine indicator technique

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