Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]
, 1972 D. N. Raine
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Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring
Journal of Pediatric Gastroenterology and Nutrition, EarlyView.Abstract Objectives Maternal biliary disease is common, but the link with offspring hepatopancreatobiliary disease has not been studied. We assessed the association between maternal biliary disease and pediatric hepatopancreatobiliary morbidity. Methods We conducted a retrospective cohort study of 1,271,864 children born between 2006 and 2022 in Quebec,
Nathalie Auger +6 more
wiley +1 more source
Book Review: Inborn Errors of Calcium and Bone Metabolism [PDF]
, 1977 B. E. C. Nordin
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Porto‐sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: A case report
JPGN Reports, EarlyView.Abstract Prolidase deficiency (PD) is a rare autosomal recessive disorder affecting collagen turnover, leading to diverse clinical manifestations including dermatologic lesions, hepatosplenomegaly, and vascular anomalies. Liver involvement in PD is poorly understood, with few reported cases.
Melissa Castro +5 more
wiley +1 more source
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. [PDF]
Mol Genet Genomic Med, 2020 Weber Hoss GR +3 more
europepmc +1 more source
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers [PDF]
, 2018 While it was thought that most of cerebral creatine is of peripheral origin, AGAT and GAMT are well expressed in CNS where brain cells synthesize creatine.
Braissant, Olivier
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D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism [PDF]
, 1987 M. Durán +4 more
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Acquired pelvic splenosis in a pediatric patient with inflammatory bowel disease: A rare case report
JPGN Reports, EarlyView.Abstract Splenosis is an acquired condition in which splenic tissue becomes implanted and grows in abnormal locations within the body, usually after the spleen has been injured or surgically removed. It is often discovered incidentally due to its asymptomatic nature.
Brad Pasternak +2 more
wiley +1 more source
In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]
, 1988 Shuichi Yamaguchi
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Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]
, 2019 Clarke, Aileen +7 more
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