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Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-02, Vol.157C (1), p.54-62

2011

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Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

International journal of molecular sciences, 2019-10, Vol.20 (21), p.5294

2019

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Lysinuric protein intolerance: update and extended mutation analysis of theSLC7A7 gene

Human mutation, 2008-01, Vol.29 (1), p.14-21

2008

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Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

The Journal of pediatrics, 2007-03, Vol.150 (3), p.300-305.e1

2007

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Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

Human mutation, 2008, Vol.29 (1), p.14-21

2008

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Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

Human mutation, 2005-04, Vol.25 (4), p.410-410

2005

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Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

American Journal of Physiology: Cell Physiology, 2000-12, Vol.279 (6), p.C1829-C1837

2000

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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1025-1032

2005

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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Human molecular genetics, 2008-05, Vol.17 (10), p.1427-1435

2008

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Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

Genetics in medicine, 2006-07, Vol.8 (7), p.409-416

2006

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Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism

American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Vol.157 (1), p.54-62

2011

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The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

Genomics (San Diego, Calif.), 1998-04, Vol.49 (2), p.230-236

1998

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The molecular bases of cystinuria and lysinuric protein intolerance

Current Opinion in Genetics & Development, 2001-06, Vol.11 (3), p.328-335

2001

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Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

American Journal of Physiology: Cell Physiology, 2007-07, Vol.293 (1), p.C191-C198

2007

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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Nature genetics, 1999-03, Vol.21 (3), p.297-301

1999

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Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

The Journal of pediatrics, 2004-08, Vol.145 (2), p.268-272

2004

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Growth hormone deficiency in a patient with lysinuric protein intolerance

European journal of pediatrics, 2006-11, Vol.165 (11), p.763-766

2006

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The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

American journal of human genetics, 1995-06, Vol.56 (6), p.1324-1333

1995

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Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia

Thrombosis and haemostasis, 2000-10, Vol.84 (4), p.576

2000

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Cystathionine ?-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene

The Journal of biological chemistry, 2002-11, Vol.277 (46), p.43821-43829

2002

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Health implications of homocysteine and folates: possible preventive measures

Nutrition, metabolism, and cardiovascular diseases, 2005-04, Vol.15 (2), p.87-93

2005

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A y LAT-1 mutant protein interferes with y LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.628-634

2005

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Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clinical genetics, 2004-02, Vol.65 (2), p.156-157

2004

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Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

Lysinuric protein intolerance: update and extended mutation analysis of theSLC7A7 gene

Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism

The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

The molecular bases of cystinuria and lysinuric protein intolerance

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Cystathionine β-synthase mutations in homocystinuria

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

Growth hormone deficiency in a patient with lysinuric protein intolerance

The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia

Cystathionine ?-synthase mutations in homocystinuria

Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene

Health implications of homocysteine and folates: possible preventive measures

A y LAT-1 mutant protein interferes with y LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

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