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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Journal of inherited metabolic disease, 2018-05, p.1-11

2018

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PP03.4 – 2660: Recurrent metabolic crises and mitochondrial encephalocardiomyopathy due to mutations in LRPPRC

European journal of paediatric neurology, 2015-05, Vol.19, p.S37-S37

2015

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Plasma 8-isoprostane is increased in preterm infants who develop bronchopulmonary dysplasia or periventricular leukomalacia

Pediatric research, 2004-07, Vol.56 (1), p.88-93

2004

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An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy

Journal of medical Internet research, 2021-05, Vol.23 (5), p.e27446-e27446

2021

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N-acetylcysteine reduces lipopolysaccharide-sensitized hypoxic-ischemic brain injury

Annals of neurology, 2007-03, Vol.61 (3), p.263-271

2007

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Glutathione depletion and cardiomyocyte apoptosis in viral myocarditis

European journal of clinical investigation, 2004-03, Vol.34 (3), p.167-175

2004

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Circulating xanthine oxidase and neutrophil activation during human liver transplantation

Gastroenterology (New York, N.Y. 1943), 1998-05, Vol.114 (5), p.1009-1015

1998

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151 Low Levels of Cystein are Associated with Increased Proinflamma-Tory Activity, Arterial Hypotension and Severe Intraventricular Hemorrhage in Preterm Infants

Pediatric research, 2004-09, Vol.56 (3), p.489-489

2004

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X-ray analysis of βB2-crystallin and evolution of oligomeric lens proteins

Nature (London), 1990-10, Vol.347 (6295), p.776-780

1990

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Physical Exercise-Induced Hyperinsulinemic Hypoglycemia Is an Autosomal-Dominant Trait Characterized by Abnormal Pyruvate-Induced Insulin Release

Diabetes (New York, N.Y.), 2003-01, Vol.52 (1), p.199-204

2003

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Thiol metabolism in preterm infants during the first week of life

Scandinavian journal of clinical and laboratory investigation, 2004, Vol.64 (7), p.649-658

2004

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Pharmacokinetics of intravenous N-acetylcysteine in pre-term new-born infants

European journal of clinical pharmacology, 1999-11, Vol.55 (9), p.645-650

1999

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Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change

Kidney international, 2005-07, Vol.68 (1), p.121-132

2005

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N-acetylcysteine does not prevent bronchopulmonary dysplasia in immature infants: a randomized controlled trial

The Journal of pediatrics, 2003-12, Vol.143 (6), p.713-719

2003

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Nerve growth factor: Structure/function relationships

Protein science, 1994-11, Vol.3 (11), p.1901-1913

1994

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Renal xanthine oxidoreductase activity during development of hypertension in spontaneously hypertensive rats

Journal of hypertension, 2004-07, Vol.22 (7), p.1333-1340

2004

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High resolution structure of an oligomeric eye lens β-crystallin: Loops, arches, linkers and interfaces in βB2 dimer compared to a monomeric γ-crystallin

Journal of molecular biology, 1991-12, Vol.222 (4), p.1067-1083

1991

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Human cystathionine gamma-lyase: developmental and in vitro expression of two isoforms

Biochemical journal, 2000-04, Vol.347 Pt 1 (1), p.291-295

2000

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Expanding screening for rare metabolic disease in the newborn : An analysis of costs, effect and ethical consequences for decision-making in Finland

Acta pædiatrica (Oslo), 2005-08, Vol.94 (8), p.1126-1136

2005

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New protein fold revealed by a 2.3-Å resolution crystal structure of nerve growth factor

Nature (London), 1991-12, Vol.354 (6352), p.411-414

1991

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Endothelial Dysfunction and Xanthine Oxidoreductase Activity in Rats With Human Renin and Angiotensinogen Genes

Hypertension (Dallas, Tex. 1979), 2001-02, Vol.37 (2, Part 2 Suppl), p.414-418

2001

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Lipoic acid supplementation prevents angiotensin II–induced renal injury

Kidney international, 2003-08, Vol.64 (2), p.501-508

2003

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New protein fold revealed by a 2.3-A resolution crystal structure of nerve growth factor

Nature (London), 1991-12, Vol.354 (6352), p.411-414

1991

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Trace element analysis of placentas of alcoholics and controls with external beam PIXE

Journal of radioanalytical and nuclear chemistry, 1987-08, Vol.118 (5), p.349-359

Lapatto, R.

1987

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X-ray structure of antistasin at 1.9Aresolution and its modelled complex with blood coagulation factorXa

The EMBO journal, 1997-09, Vol.16 (17), p.5151-5161

Lapatto, R.

1997

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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

PP03.4 – 2660: Recurrent metabolic crises and mitochondrial encephalocardiomyopathy due to mutations in LRPPRC

Plasma 8-isoprostane is increased in preterm infants who develop bronchopulmonary dysplasia or periventricular leukomalacia

An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy

N-acetylcysteine reduces lipopolysaccharide-sensitized hypoxic-ischemic brain injury

Glutathione depletion and cardiomyocyte apoptosis in viral myocarditis

Circulating xanthine oxidase and neutrophil activation during human liver transplantation

151 Low Levels of Cystein are Associated with Increased Proinflamma-Tory Activity, Arterial Hypotension and Severe Intraventricular Hemorrhage in Preterm Infants

X-ray analysis of βB2-crystallin and evolution of oligomeric lens proteins

Physical Exercise-Induced Hyperinsulinemic Hypoglycemia Is an Autosomal-Dominant Trait Characterized by Abnormal Pyruvate-Induced Insulin Release

Thiol metabolism in preterm infants during the first week of life

Pharmacokinetics of intravenous N-acetylcysteine in pre-term new-born infants

Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change

N-acetylcysteine does not prevent bronchopulmonary dysplasia in immature infants: a randomized controlled trial

Nerve growth factor: Structure/function relationships

Renal xanthine oxidoreductase activity during development of hypertension in spontaneously hypertensive rats

High resolution structure of an oligomeric eye lens β-crystallin: Loops, arches, linkers and interfaces in βB2 dimer compared to a monomeric γ-crystallin

Human cystathionine gamma-lyase: developmental and in vitro expression of two isoforms

Expanding screening for rare metabolic disease in the newborn : An analysis of costs, effect and ethical consequences for decision-making in Finland

New protein fold revealed by a 2.3-Å resolution crystal structure of nerve growth factor

Endothelial Dysfunction and Xanthine Oxidoreductase Activity in Rats With Human Renin and Angiotensinogen Genes

Lipoic acid supplementation prevents angiotensin II–induced renal injury

New protein fold revealed by a 2.3-A resolution crystal structure of nerve growth factor

Trace element analysis of placentas of alcoholics and controls with external beam PIXE

X-ray structure of antistasin at 1.9Aresolution and its modelled complex with blood coagulation factorXa

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