Normal initial blood galactose levels in a newborn with galactosemia

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Molecular genetics and metabolism·2010

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Human mutation·2008

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency.

Prenatal diagnosis·1999

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

American journal of human genetics·1998

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

American journal of human genetics·1994

NSAID-induced gastroenteropathy: a biochemical dissection.

Hospital practice (Office ed.)·1992

Applicability of the Greulich and Pyle skeletal age standards to black and white children of today.

American journal of diseases of children (1960)·1993

Maltreatment of children born to cocaine-dependent mothers.

American journal of diseases of children (1960)·1993

Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy.

American journal of diseases of children (1960)·1993

Passive-active immunization in infants of hepatitis Be antigen-positive mothers. Comparison of the efficacy of early and delayed active immunization.

American journal of diseases of children (1960)·1993

Effects of methylphenidate on sleep in children with attention-deficient hyperactivity disorder. An activity monitor study.

American journal of diseases of children (1960)·1993

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

American journal of diseases of children (1960)·1993

Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension.

JACC. Case reports·2026

Diagnostic Role of Complete Blood Count (CBC) and C-reactive Protein (CRP) in Suspected Early-Onset Sepsis and Antibiotic Stewardship in the Neonatal Intensive Care Unit (NICU).

Cureus·2026

The applications, complications, and management of neonatal peripherally inserted central catheters (n-PICCs): a narrative review.

Frontiers in pediatrics·2026

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

EClinicalMedicine·2026

Clinical determinants of mortality in congenital diaphragmatic hernia: a single-center cohort study from Colombia.

Frontiers in pediatrics·2026

Correlation analysis of cyclosporine A trough concentration with hematological and biochemical parameters: a retrospective study in pediatric aplastic anemia.

Frontiers in pediatrics·2026

Related Experiment Videos

Normal initial blood galactose levels in a newborn with galactosemia

Related Concept Videos

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency.

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

NSAID-induced gastroenteropathy: a biochemical dissection.

Applicability of the Greulich and Pyle skeletal age standards to black and white children of today.

Maltreatment of children born to cocaine-dependent mothers.

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Passive-active immunization in infants of hepatitis Be antigen-positive mothers. Comparison of the efficacy of early and delayed active immunization.

Effects of methylphenidate on sleep in children with attention-deficient hyperactivity disorder. An activity monitor study.

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension.

Diagnostic Role of Complete Blood Count (CBC) and C-reactive Protein (CRP) in Suspected Early-Onset Sepsis and Antibiotic Stewardship in the Neonatal Intensive Care Unit (NICU).

The applications, complications, and management of neonatal peripherally inserted central catheters (n-PICCs): a narrative review.

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

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Normal initial blood galactose levels in a newborn with galactosemia

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