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Combining Immunoreactive Trypsinogen and Pancreatitis-Associated Protein Assays, a Method of Newborn Screening for Cystic Fibrosis that Avoids DNA Analysis

The Journal of pediatrics, 2005-09, Vol.147 (3), p.302-305

2005

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History and organization of the French systematic neonatal screening program (1967-2020)

M.S. Médecine sciences, 2021-05, Vol.37 (5), p.433

Farriaux, Jean-Pierre

2021

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Maternal phenylketonuria: the French survey

European journal of pediatrics, 2004-09, Vol.163 (9), p.540-546

2004

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Liver transplantation for ornithine transcarbamylase deficiency in a girl

The Journal of pediatrics, 1989-09, Vol.115 (3), p.415-417

1989

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Subtle Health Impairment and Socioeducational Attainment in Young Adult Patients with Congenital Hypothyroidism Diagnosed by Neonatal Screening: A Longitudinal Population-Based Cohort Study

The journal of clinical endocrinology and metabolism, 2011-06, Vol.96 (6), p.1771-1782

2011

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Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

Archives of disease in childhood. Fetal and neonatal edition, 1999-03, Vol.80 (2), p.F118

1999

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Metaphyseal acroscyphodysplasia

Clinical genetics, 1991-05, Vol.39 (5), p.362-369

1991

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Intraoperative Endoscopic Diagnosis of Heterotopic Gastric Mucosa in the Ileum Causing Recurrent Acute Intussusception

Journal of pediatric gastroenterology and nutrition, 1990-08, Vol.11 (2), p.275-278

1990

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Brachmann-de Lange syndrome: Pre- and postnatal findings

American journal of medical genetics, 1996-03, Vol.62 (3), p.268-273

1996

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Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome

Atherosclerosis, 1995-06, Vol.115 (2), p.233-241

1995

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A fatal case of portal hypertension complicating systemic mastocytosis in an adolescent

European journal of pediatrics, 1995-10, Vol.154 (10), p.819-821

1995

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Improvement of Nutritional Status in Cholestatic Children with Supplemental Nocturnal Enteral Nutrition

Journal of pediatric gastroenterology and nutrition, 1991-02, Vol.12 (2), p.213-216

1991

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Lipoprotein Lp(a) in homozygous familial hypercholesterolemia: density profile, particle heterogeneity and apolipoprotein(a) phenotype

Atherosclerosis, 1991, Vol.86 (1), p.69-83

1991

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Prenatal screening for Down's syndrome and human chorionic gonadotropin isoforms

Clinica chimica acta, 1993-12, Vol.223 (1), p.173-177

1993

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Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

Human genetics, 1991-02, Vol.86 (4), p.355-358

1991

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2,4-Diamino-7-hydroxy-pteridines in biological fluids of patients on high-dose methotrexate

Clinica chimica acta, 1993-11, Vol.220 (2), p.189-200

1993

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Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family

American journal of medical genetics, 1990-09, Vol.37 (1), p.143-146

1990

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Intraoperative Endoscopic Diagnosis of Heterotopic Gastric Mucosa in the Ileum Causing Recurrent Acute Intussusception

Journal of pediatric gastroenterology and nutrition, 1990-08, Vol.11 (2), p.275-278

1990

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Primary Structure of Three Mannosyl‐glycoasparagines and Nine Sialyl‐oligosaccharides Isolated from the Urine of Two Patients with Gaucher's Disease (Infantile Form)

European journal of biochemistry, 1983-05, Vol.132 (2), p.375-381

1983

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Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003

Archives of pediatrics & adolescent medicine, 2012-02, Vol.166 (2), p.113

2012

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Nutritional status of children with acute lymphoblastic leukemia: a longitudinal study

The American journal of clinical nutrition, 1997-01, Vol.65 (1), p.95-100

1997

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Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

The Journal of pediatrics, 1985-06, Vol.106 (6), p.954-956

1985

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Improvement of Nutritional Status in Cholestatic Children with Supplemental Nocturnal Enteral Nutrition

Journal of pediatric gastroenterology and nutrition, 1991-02, Vol.12 (2), p.213-216

1991

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Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

Clinica chimica acta, 1981-03, Vol.110 (2), p.205-214

1981

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Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism

Clinica chimica acta, 1981-10, Vol.116 (2), p.143-152

1981

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Combining Immunoreactive Trypsinogen and Pancreatitis-Associated Protein Assays, a Method of Newborn Screening for Cystic Fibrosis that Avoids DNA Analysis

History and organization of the French systematic neonatal screening program (1967-2020)

Maternal phenylketonuria: the French survey

Liver transplantation for ornithine transcarbamylase deficiency in a girl

Subtle Health Impairment and Socioeducational Attainment in Young Adult Patients with Congenital Hypothyroidism Diagnosed by Neonatal Screening: A Longitudinal Population-Based Cohort Study

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

Metaphyseal acroscyphodysplasia

Intraoperative Endoscopic Diagnosis of Heterotopic Gastric Mucosa in the Ileum Causing Recurrent Acute Intussusception

Brachmann-de Lange syndrome: Pre- and postnatal findings

Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome

A fatal case of portal hypertension complicating systemic mastocytosis in an adolescent

Improvement of Nutritional Status in Cholestatic Children with Supplemental Nocturnal Enteral Nutrition

Lipoprotein Lp(a) in homozygous familial hypercholesterolemia: density profile, particle heterogeneity and apolipoprotein(a) phenotype

Prenatal screening for Down's syndrome and human chorionic gonadotropin isoforms

Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

2,4-Diamino-7-hydroxy-pteridines in biological fluids of patients on high-dose methotrexate

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family

Intraoperative Endoscopic Diagnosis of Heterotopic Gastric Mucosa in the Ileum Causing Recurrent Acute Intussusception

Primary Structure of Three Mannosyl‐glycoasparagines and Nine Sialyl‐oligosaccharides Isolated from the Urine of Two Patients with Gaucher's Disease (Infantile Form)

Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003

Nutritional status of children with acute lymphoblastic leukemia: a longitudinal study

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

Improvement of Nutritional Status in Cholestatic Children with Supplemental Nocturnal Enteral Nutrition

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism

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