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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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Prevalence of malnutrition in nonsurgical hospitalized patients and its association with disease complications

The American journal of clinical nutrition, 1997-11, Vol.66 (5), p.1232-1239

1997

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Lactobacilli and Acidosis in Children With Short Small Bowel

Journal of pediatric gastroenterology and nutrition, 2000-03, Vol.30 (3), p.288-293

2000

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Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

Scandinavian journal of gastroenterology, 2005-10, Vol.40 (10), p.1246-1250

2005

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Specificity of indexes of malnutrition when applied to apparently healthy people: the effect of age

The American journal of clinical nutrition, 1997-06, Vol.65 (6), p.1721-1725

1997

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D-lactic acidemia and aciduria in pediatric and adult patients with short bowel syndrome

Clinical chemistry (Baltimore, Md.), 1995-01, Vol.41 (1), p.107-110

1995

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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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High-performance liquid chromatographic assay for identification and quantitation of nucleotides in lymphocytes and malignant lymphoblasts

Journal of chromatography, 1982-01, Vol.227 (1), p.45-52

1982

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Lactobacilli and Acidosis in Children With Short Small Bowel

Journal of pediatric gastroenterology and nutrition, 2000-03, Vol.30 (3), p.288-293

2000

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378 ICF SYNDROME

Pediatric research, 1994-07, Vol.36 (1), p.65-65A

1994

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In Reply: D-Lactic Acidosis in Patients with Short Bowel Syndrome

Clinical chemistry (Baltimore, Md.), 1995-05, Vol.41 (5), p.768-769

1995

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Light chain ratios and concentrations of serum immunoglobulins in children with epilepsy

Epilepsy research, 1992-12, Vol.13 (3), p.255-260

1992

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IgG2 deficiency in young children treated with continuous ambulatory peritoneal dialysis (CAPD)

Peritoneal dialysis international, 1989-01, Vol.9 (4), p.261-265

1989

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Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

Scandinavian Journal of Gastroenterology, 2005, Vol.40 (10), p.1246-1250

2005

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Inhibition of lymphoid cell growth by adenine ribonucleotide accumulation. The role of phosphoribosylpyrophosphate-depletion induced pyrimidine starvation

Biochimica et biophysica acta, 1987-02, Vol.927 (2), p.213-221

1987

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Heterozygosity for homocystinuria in premature arterial disease

The New England journal of medicine, 1986-03, Vol.314 (13), p.849-851

1986

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DIHYDROTHYMINE DEHYDROGENASE DEFICIENCY IN A FAMILY LEADING TO ELEVATED LEVELS OF URACIL AND THYMINE: 51

Pediatric research, 1985-07, Vol.19 (7), p.752-752

1985

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BIPHASIC EFFECT OF ADENOSINE ON CELL GROWTH AND CELL CYCLE OF HUMAN LYMPHOID CELL LINES: 219

Pediatric research, 1985-07, Vol.19 (7), p.780-780

1985

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INHIBITION OF 3H-THYMIDINE INCORPORATION BY ADENOSINE AND DEOXYADENOSINE IN HUMAN PERIPHERAL LYMPHOCYTES AND MALIGNANT LYMPHOID CELL LINES: 218

Pediatric research, 1985-07, Vol.19 (7), p.780-780

1985

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Defective tubular reabsorption of pyruvic and L-lactic acid

The New England journal of medicine, 1980-09, Vol.303 (12), p.706-706

1980

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Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens' attitudes

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.2-10

2021

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Transferrin Saturation/Hepcidin Ratio Discriminates TMPRSS6 -Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia

International journal of molecular sciences, 2022-02, Vol.23 (3), p.1917

2022

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Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.302-308

2024

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Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients' test uptake

European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.235-243

2019

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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

Prevalence of malnutrition in nonsurgical hospitalized patients and its association with disease complications

Lactobacilli and Acidosis in Children With Short Small Bowel

Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

Specificity of indexes of malnutrition when applied to apparently healthy people: the effect of age

D-lactic acidemia and aciduria in pediatric and adult patients with short bowel syndrome

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

High-performance liquid chromatographic assay for identification and quantitation of nucleotides in lymphocytes and malignant lymphoblasts

Lactobacilli and Acidosis in Children With Short Small Bowel

378 ICF SYNDROME

In Reply: D-Lactic Acidosis in Patients with Short Bowel Syndrome

Light chain ratios and concentrations of serum immunoglobulins in children with epilepsy

IgG2 deficiency in young children treated with continuous ambulatory peritoneal dialysis (CAPD)

Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

Inhibition of lymphoid cell growth by adenine ribonucleotide accumulation. The role of phosphoribosylpyrophosphate-depletion induced pyrimidine starvation

Heterozygosity for homocystinuria in premature arterial disease

DIHYDROTHYMINE DEHYDROGENASE DEFICIENCY IN A FAMILY LEADING TO ELEVATED LEVELS OF URACIL AND THYMINE: 51

BIPHASIC EFFECT OF ADENOSINE ON CELL GROWTH AND CELL CYCLE OF HUMAN LYMPHOID CELL LINES: 219

INHIBITION OF 3H-THYMIDINE INCORPORATION BY ADENOSINE AND DEOXYADENOSINE IN HUMAN PERIPHERAL LYMPHOCYTES AND MALIGNANT LYMPHOID CELL LINES: 218

Defective tubular reabsorption of pyruvic and L-lactic acid

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens' attitudes

Transferrin Saturation/Hepcidin Ratio Discriminates TMPRSS6 -Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia

Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study

Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients' test uptake

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