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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients

Pediatrics (Evanston), 1997-04, Vol.99 (4), p.567-574

1997

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Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease

The New England journal of medicine, 1985-09, Vol.313 (12), p.709-715

1985

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Dihydropyrimidinase deficiency, a progressive neurological disorder?

Neuropediatrics, 1997-04, Vol.28 (2), p.106-110

1997

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Role of bacteria in the pathogenesis of short bowel syndrome-associated D-lactic acidemia

Microbial pathogenesis, 1997-05, Vol.22 (5), p.285-293

1997

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Clinical Manifestations in Selective IgA Deficiency in Childhood; A Follow-up Report

Acta Paediatrica, 1991-08, Vol.80 (8-9), p.798-804

1991

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A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

Acta Paediatrica, 1981-07, Vol.70 (4), p.557-564

1981

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Immunological studies in the hyper-immunoglobulin D syndrome

Journal of clinical immunology, 1992-11, Vol.12 (6), p.424-428

1992

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Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

European journal of pediatrics, 1988-11, Vol.148 (2), p.92-97

1988

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Nephelometry of the kappa/lambda light-chain ratio in serum of normal and diseased children

Clinical chemistry (Baltimore, Md.), 1986-12, Vol.32 (12), p.2147-2149

1986

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CD4 deficiency in myelodysplastic syndrome with monosomy 7

European journal of pediatrics, 1996-02, Vol.155 (2), p.96-98

1996

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Altered immunoglobulin concentrations and light chain ratios in juvenile onset mixed connective tissue disease

Clinical rheumatology, 1995-01, Vol.14 (1), p.51-54

1995

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Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

European journal of pediatrics, 1993-06, Vol.152 (6), p.509-512

1993

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The use of chorionic villi in prenatal diagnosis of mitochondriopathies

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.303-306

1992

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Immunoglobulin Levels during Follow‐up of Children with Selective IgA Deficiency

Scandinavian journal of immunology, 1992-06, Vol.35 (6), p.719-725

1992

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Immunoglobulin G, A and M Light Chain Ratio in Children

Annals of clinical biochemistry, 1992-05, Vol.29 (3), p.271-274

1992

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Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

Journal of inherited metabolic disease, 1992-01, Vol.15 (1), p.84-91

1992

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Lactobacillus flora in short bowel syndrome

Digestive diseases and sciences, 1997-08, Vol.42 (8), p.1611-1612

1997

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Determination of Kappa and Lambda Light Chains in Serum Immunoglobulins G, A and M

Annals of clinical biochemistry, 1991-09, Vol.28 (5), p.461-466

1991

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Light Chain Ratios and Concentrations of Immunoglobulins G, A, And M in Childhood Common Acute Lymphoblastic Leukemia

Pediatric hematology and oncology, 1994, Vol.11 (1), p.83-90

1994

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Iatrogenic IgG2 deficiency in a leukaemic child : a case report

European journal of pediatrics, 1992-04, Vol.151 (4), p.271-273

1992

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Effects of 8-aminoguanosine on the toxicity of guanosine and deoxyguanosine for malignant and normal lymphoid cells

Journal of leukocyte biology, 1988-07, Vol.44 (1), p.46-50

1988

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Screening for microalbuminuria in patients with diabetes mellitus: frozen storage of urine samples decreases their albumin content

Clinical chemistry (Baltimore, Md.), 1989-02, Vol.35 (2), p.308-310

1989

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A milder variant of Zellweger syndrome

European journal of pediatrics, 1985-11, Vol.144 (4), p.338-342

1985

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The importance of immunoglobulin-breakdown supporting the growth of bacteria in oral abscesses

Journal of clinical periodontology, 1996-08, Vol.23 (8), p.717-723

1996

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Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the disease

Journal of inherited metabolic disease, 1986-12, Vol.9 (4), p.335-342

1986

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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients

Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease

Dihydropyrimidinase deficiency, a progressive neurological disorder?

Role of bacteria in the pathogenesis of short bowel syndrome-associated D-lactic acidemia

Clinical Manifestations in Selective IgA Deficiency in Childhood; A Follow-up Report

A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

Immunological studies in the hyper-immunoglobulin D syndrome

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

Nephelometry of the kappa/lambda light-chain ratio in serum of normal and diseased children

CD4 deficiency in myelodysplastic syndrome with monosomy 7

Altered immunoglobulin concentrations and light chain ratios in juvenile onset mixed connective tissue disease

Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

The use of chorionic villi in prenatal diagnosis of mitochondriopathies

Immunoglobulin Levels during Follow‐up of Children with Selective IgA Deficiency

Immunoglobulin G, A and M Light Chain Ratio in Children

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

Lactobacillus flora in short bowel syndrome

Determination of Kappa and Lambda Light Chains in Serum Immunoglobulins G, A and M

Light Chain Ratios and Concentrations of Immunoglobulins G, A, And M in Childhood Common Acute Lymphoblastic Leukemia

Iatrogenic IgG2 deficiency in a leukaemic child : a case report

Effects of 8-aminoguanosine on the toxicity of guanosine and deoxyguanosine for malignant and normal lymphoid cells

Screening for microalbuminuria in patients with diabetes mellitus: frozen storage of urine samples decreases their albumin content

A milder variant of Zellweger syndrome

The importance of immunoglobulin-breakdown supporting the growth of bacteria in oral abscesses

Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the disease

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