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UnknownCreatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes.
Not available
S-EPMC10081004 | biostudies-literature
UnknownCoagulation abnormalities and vascular complications are common in PGM1-CDG.
Not available
S-EPMC12682075 | biostudies-literature
UnknownFunctional Characterization of Variants in <i>LARP7</i>: Report of Three New Individuals With Alazami Syndrome and a Literature Review.
Not available
S-EPMC12178771 | biostudies-literature
UnknownLysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.
Not available
S-EPMC7973239 | biostudies-literature
UnknownDNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Not available
S-EPMC6244406 | biostudies-literature
UnknownUrine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Not available
S-EPMC7709238 | biostudies-literature
UnknownExpanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.
Not available
S-EPMC7661073 | biostudies-literature
UnknownPrevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Not available
S-EPMC8391492 | biostudies-literature
UnknownThink classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.
Not available
S-EPMC12549521 | biostudies-literature
UnknownOutcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights.
Not available
S-EPMC12002938 | biostudies-literature
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