Thiamine-responsive intermittent branched-chain ketoaciduria

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

JIMD reports·2015

A psychosocial model of a medical problem: Maternal phenylketonuria.

The journal of primary prevention·2013

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

JIMD reports·2013

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.

Molecular genetics and metabolism·2009

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Molecular genetics and metabolism·2008

Trends in Postmenstrual Age at Discharge and Predictive Factors Among a Contemporary Cohort of Infants Born Preterm.

The Journal of pediatrics·2026

Safety and Efficacy of a Novel Aerosolized Surfactant (APC-0101) for the Treatment of Respiratory Distress Syndrome in Preterm Infants: A Randomized Phase 2b Study.

The Journal of pediatrics·2026

Effect of Extended Infusion versus Intermittent Bolus Feedings on Hospital Weight Gain in Extremely Low Birth Weight Infants Born at <29 Weeks of Gestation: A Randomized Non-Inferiority Clinical Trial.

The Journal of pediatrics·2026

Racial and Ethnic Variation in Outpatient Respiratory Outcomes in Bronchopulmonary Dysplasia.

The Journal of pediatrics·2026

Factors Influencing Pediatrician Life Satisfaction.

The Journal of pediatrics·2026

Association of Birth Weight with Delivery Room Endotracheal Intubation Success in Newborn Infants.

The Journal of pediatrics·2026

Effects of Synbiotic Supplementation on Bone Turnover Markers in Kidney Transplant Recipients: A Randomized Controlled Trial.

Food science & nutrition·2026

Partial enteral nutrition combined with an exclusion diet promotes a healthy gut microbiome in patients with mild to moderately active ulcerative colitis: a quasi-experimental study.

Crohn's & colitis 360·2026

Severe Tertiary Hyperparathyroidism with Brown Tumor and Multisystem Complications Mimicking Plasma Cell Dyscrasia in a Middle-Aged Man with Childhood-Onset FSGS.

Journal of investigative medicine high impact case reports·2026

Refeeding syndrome: Applicability of ASPEN criteria in patients with intestinal failure.

Intestinal Failure (New York, N.Y.)·2026

Case series of selenium insufficiency among infants with intestinal failure.

Intestinal Failure (New York, N.Y.)·2026

Individual Amino Acid Supplementation Does Not Enhance Short-Term Proliferation of Selected Cancer Cell Lines In Vitro: Potential Implications for Nutritional Support in Cancer Cachexia.

Nutrients·2026

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Thiamine-responsive intermittent branched-chain ketoaciduria

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Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Trends in Postmenstrual Age at Discharge and Predictive Factors Among a Contemporary Cohort of Infants Born Preterm.

Safety and Efficacy of a Novel Aerosolized Surfactant (APC-0101) for the Treatment of Respiratory Distress Syndrome in Preterm Infants: A Randomized Phase 2b Study.

Effect of Extended Infusion versus Intermittent Bolus Feedings on Hospital Weight Gain in Extremely Low Birth Weight Infants Born at <29 Weeks of Gestation: A Randomized Non-Inferiority Clinical Trial.

Racial and Ethnic Variation in Outpatient Respiratory Outcomes in Bronchopulmonary Dysplasia.

Factors Influencing Pediatrician Life Satisfaction.

Association of Birth Weight with Delivery Room Endotracheal Intubation Success in Newborn Infants.

Effects of Synbiotic Supplementation on Bone Turnover Markers in Kidney Transplant Recipients: A Randomized Controlled Trial.

Partial enteral nutrition combined with an exclusion diet promotes a healthy gut microbiome in patients with mild to moderately active ulcerative colitis: a quasi-experimental study.

Severe Tertiary Hyperparathyroidism with Brown Tumor and Multisystem Complications Mimicking Plasma Cell Dyscrasia in a Middle-Aged Man with Childhood-Onset FSGS.

Refeeding syndrome: Applicability of ASPEN criteria in patients with intestinal failure.

Case series of selenium insufficiency among infants with intestinal failure.

Individual Amino Acid Supplementation Does Not Enhance Short-Term Proliferation of Selected Cancer Cell Lines In Vitro: Potential Implications for Nutritional Support in Cancer Cachexia.

Related Experiment Videos

Thiamine-responsive intermittent branched-chain ketoaciduria

Related Concept Videos

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