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Peritoneal Protein Losses and Cytokine Generation in Automated Peritoneal Dialysis with Combined Amino Acids and Glucose Solutions

Mediators of Inflammation, 2007-01, Vol.2007 (2), p.436-440

2007

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Albumin and whole-body protein synthesis respond differently to intraperitoneal and oral amino acids

Kidney international, 2007-08, Vol.72 (3), p.364-369

2007

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Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

Journal of inherited metabolic disease, 2002-09, Vol.25 (5), p.399-410

2002

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The Role of Nitric Oxide in Bacterial Meningitis in Children

The Journal of infectious diseases, 1996-07, Vol.174 (1), p.120-126

1996

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Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay

Prenatal diagnosis, 2002-11, Vol.22 (11), p.1016-1021

2002

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Immediate commencement of amino acid supplementation in preterm infants: Effect on serum amino acid concentrations and protein kinetics on the first day of life

The Journal of pediatrics, 1995-09, Vol.127 (3), p.458-465

1995

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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

Molecular genetics and metabolism, 2006-02, Vol.87 (2), p.102-106

2006

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Fatal neonatal malonic aciduria

Journal of inherited metabolic disease, 1998-02, Vol.21 (1), p.76-77

1998

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Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment

Pediatrics (Evanston), 2000-09, Vol.106 (3), p.596-600

2000

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Glycogen storage disease type III with diagnosis complicated by gluten‐sensitive enteropathy

Journal of inherited metabolic disease, 1998-06, Vol.21 (4), p.437-438

1998

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Sudden infant death and lysinuric protein intolerance

European journal of pediatrics, 1996-03, Vol.155 (3), p.256-257

1996

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PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY

Prenatal diagnosis, 1996-09, Vol.16 (9), p.829-835

1996

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AMNIOTIC FLUID ODD-CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA

Prenatal diagnosis, 1996-10, Vol.16 (10), p.941-944

1996

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Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

Dermatology (Basel), 1999, Vol.198 (1), p.18-25

1999

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Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters

Prenatal diagnosis, 1995-06, Vol.15 (6), p.527-533

1995

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β‐Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

Journal of inherited metabolic disease, 1990-01, Vol.13 (6), p.867-872

1990

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Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome

European journal of human genetics : EJHG, 2000-03, Vol.8 (3), p.195-203

2000

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Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

Prenatal diagnosis, 1994-01, Vol.14 (1), p.17-22

1994

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Assessment of deficiencies of fatty acyl‐CoA dehydrogenases in fibroblasts, muscle and liver

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.347-352

1992

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Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

European neurology, 2000-01, Vol.43 (2), p.88-94

2000

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A clinical biochemist's view of the investigation of suspected inherited metabolic disease

Journal of inherited metabolic disease, 1989-03, Vol.12 (1), p.64-88

1989

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Prenatal diagnosis of the urea cycle diseases: A survey of the european cases

American journal of medical genetics, 1995-01, Vol.55 (2), p.247-250

1995

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β-glucuronidase deficiency as a cause of fetal hydrops

American journal of medical genetics, 1992-03, Vol.42 (5), p.693-695

1992

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Amino Acid Solutions for Premature Neonates During the First Week of Life: The Role of N-Acetyl-L-Cysteine and N-Acetyl-L-Tyrosine

JPEN. Journal of parenteral and enteral nutrition, 1994-09, Vol.18 (5), p.404-408

1994

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L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship

Neuropediatrics, 1997-12, Vol.28 (6), p.314-317

1997

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Peritoneal Protein Losses and Cytokine Generation in Automated Peritoneal Dialysis with Combined Amino Acids and Glucose Solutions

Albumin and whole-body protein synthesis respond differently to intraperitoneal and oral amino acids

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

The Role of Nitric Oxide in Bacterial Meningitis in Children

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay

Immediate commencement of amino acid supplementation in preterm infants: Effect on serum amino acid concentrations and protein kinetics on the first day of life

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

Fatal neonatal malonic aciduria

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment

Glycogen storage disease type III with diagnosis complicated by gluten‐sensitive enteropathy

Sudden infant death and lysinuric protein intolerance

PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY

AMNIOTIC FLUID ODD-CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters

β‐Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

Assessment of deficiencies of fatty acyl‐CoA dehydrogenases in fibroblasts, muscle and liver

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

A clinical biochemist's view of the investigation of suspected inherited metabolic disease

Prenatal diagnosis of the urea cycle diseases: A survey of the european cases

β-glucuronidase deficiency as a cause of fetal hydrops

Amino Acid Solutions for Premature Neonates During the First Week of Life: The Role of N-Acetyl-L-Cysteine and N-Acetyl-L-Tyrosine

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship

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