about
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature reviewArginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwideTreatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.The genotypic and phenotypic spectrum of PIGA deficiency.Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria.Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities.Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.Treatment of intractable epilepsy in a female with SLC6A8 deficiency.Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.Variability of phenotype in two sisters with pyridoxine dependent epilepsy.Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria.Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome.Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length.Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases.Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition
P50
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P50
name
Sylvia Stockler-Ipsiroglu
@ast
Sylvia Stockler-Ipsiroglu
@en
Sylvia Stockler-Ipsiroglu
@es
Sylvia Stockler-Ipsiroglu
@nl
type
label
Sylvia Stockler-Ipsiroglu
@ast
Sylvia Stockler-Ipsiroglu
@en
Sylvia Stockler-Ipsiroglu
@es
Sylvia Stockler-Ipsiroglu
@nl
prefLabel
Sylvia Stockler-Ipsiroglu
@ast
Sylvia Stockler-Ipsiroglu
@en
Sylvia Stockler-Ipsiroglu
@es
Sylvia Stockler-Ipsiroglu
@nl