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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

Proceedings of the National Academy of Sciences - PNAS, 2012-12, Vol.109 (50), p.E3434-E3443

2012

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Plasma homocysteine levels are not increased in murine models of Alzheimer's disease

Neuroscience research, 2005-12, Vol.53 (4), p.447-449

2005

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Altered Gene Expression in Liver from a Murine Model of Hyperhomocysteinemia

The Journal of biological chemistry, 2003-08, Vol.278 (34), p.31504-31511

2003

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Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Human mutation, 2009-05, Vol.30 (5), p.734-740

2009

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Sustained reduction of hyperhomocysteinaemia with folic acid supplementation in predialysis patients

Nephrology, dialysis, transplantation, 1999-12, Vol.14 (12), p.2903-2906

1999

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The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia

Journal of neurochemistry, 2004-04, Vol.89 (1), p.33-43

2004

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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

Proceedings of the National Academy of Sciences - PNAS, 2012-12, Vol.109 (50), p.20180-20181

2012

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Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

Human mutation, 1997, Vol.9 (1), p.81-82

1997

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Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine ²-synthase protein in two French pyridoxine-responsive homocystinuria patients

Human mutation, 1997-01, Vol.9 (1), p.81

1997

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Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria

Clinical chemistry (Baltimore, Md.), 1995-11, Vol.41 (11), p.1663-1664

1995

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Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Prenatal diagnosis, 2003-11, Vol.23 (11), p.884-887

2003

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Ubiquinone concentration in control chorionic villi and fetal liver

Prenatal diagnosis, 1991-03, Vol.11 (3), p.206-206

1991

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Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

The Journal of pediatrics, 1992-08, Vol.121 (2), p.255-258

1992

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Long-term folic acid (but not pyridoxine) supplementation lowers elevated plasma homocysteine level in chronic renal failure

Mineral and electrolyte metabolism, 1996, Vol.22 (1-3), p.106

1996

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Hyperhomocysteinemia is associated with atherosclerotic occlusive arterial accidents in predialysis chronic renal failure patients

Mineral and electrolyte metabolism, 1997, Vol.23 (3-6), p.170

1997

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Perturbation of the Surface of Amorphous Solid Water by the Adsorption of Polycyclic Aromatic Hydrocarbons

Journal of physical chemistry. C, 2020-02, Vol.124 (5), p.2994-3001

2020

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Efficient photochemistry of coronene:water complexes

Astronomy and astrophysics (Berlin), 2017-03, Vol.599, p.A124

2017

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Ultrafast electronic relaxations from the S 3 state of pyrene

Physical chemistry chemical physics : PCCP, 2019-07, Vol.21 (26), p.14111-14125

2019

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Photochemistry of Pyrene with Water at Low Temperature: Study of Atmospherical and Astrochemical Interest

The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory, 2011-03, Vol.115 (10), p.1844-1852

2011

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Photochemistry of coronene with water at 10 K: first tentative identification by infrared spectroscopy of oxygen containing coronene products

Physical chemistry chemical physics : PCCP, 2011-01, Vol.13 (16), p.7340-7347

2011

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Infrared matrix-isolation and theoretical studies of interactions between CH3I and water

Journal of molecular structure, 2021-07, Vol.1236, p.130342, Article 130342

2021

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Photochemistry of Fe:H2O Adducts in Argon Matrixes: A Combined Experimental and Theoretical Study in the Mid-IR and UV–Visible Regions

The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory, 2018-01, Vol.122 (2), p.529-542

2018

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Ultrafast electronic relaxations from the S3 state of pyrene

Physical chemistry chemical physics : PCCP, 2019, Vol.21 (26), p.14111-14125

2019

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Water Clusters in Interaction with Corannulene in a Rare Gas Matrix: Structures, Stability and IR Spectra

Photochem, 2022-06, Vol.2 (2), p.237-262

2022

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Formation of coronene:water complexes: FTIR study in argon matrices and theoretical characterisation

Physical chemistry chemical physics : PCCP, 2017-03, Vol.19 (12), p.8516-8529

2017

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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

Plasma homocysteine levels are not increased in murine models of Alzheimer's disease

Altered Gene Expression in Liver from a Murine Model of Hyperhomocysteinemia

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Sustained reduction of hyperhomocysteinaemia with folic acid supplementation in predialysis patients

The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine ²-synthase protein in two French pyridoxine-responsive homocystinuria patients

Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Ubiquinone concentration in control chorionic villi and fetal liver

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

Long-term folic acid (but not pyridoxine) supplementation lowers elevated plasma homocysteine level in chronic renal failure

Hyperhomocysteinemia is associated with atherosclerotic occlusive arterial accidents in predialysis chronic renal failure patients

Perturbation of the Surface of Amorphous Solid Water by the Adsorption of Polycyclic Aromatic Hydrocarbons

Efficient photochemistry of coronene:water complexes

Ultrafast electronic relaxations from the S 3 state of pyrene

Photochemistry of Pyrene with Water at Low Temperature: Study of Atmospherical and Astrochemical Interest

Photochemistry of coronene with water at 10 K: first tentative identification by infrared spectroscopy of oxygen containing coronene products

Infrared matrix-isolation and theoretical studies of interactions between CH3I and water

Photochemistry of Fe:H2O Adducts in Argon Matrixes: A Combined Experimental and Theoretical Study in the Mid-IR and UV–Visible Regions

Ultrafast electronic relaxations from the S3 state of pyrene

Water Clusters in Interaction with Corannulene in a Rare Gas Matrix: Structures, Stability and IR Spectra

Formation of coronene:water complexes: FTIR study in argon matrices and theoretical characterisation

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