Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Jun‐ichi Nezu, Ikumi Tamai, Asuka Oku, +16

Nature Genetics

Sodium HomeostasisGeneticsInherited Metabolic DiseasePhysiologyMetabolism +1

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic, +24

Nature Genetics

Mendelian DisorderGenetic DisorderCause Hartnup DisorderGeneticsInherited Metabolic Disease +5

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, +10

Zhongguo dangdai erke zazhi

BiosynthesisBiochemical GeneticsBiochemistryMetabolism

Effects of Individual Mutations in the P-450(C21) Pseudogene on the P-450(C21) Activity and Their Distribution in the Patient Genomes of Congenital Steroid 21-Hydroxylase Deficiency1

Yujiro Higashi, T Hiromasa, Ayako Tanae, +7

The Journal of Biochemistry

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Akemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki, +15

Molecular Genetics and Metabolism

Neuro-oncologyBrain InvolvementHematologyNeurological ProgressMucopolysaccharidosis Type Ii +8

Neonatal presentation of adult-onset type II citrullinemia

Toshihiro Ohura, Keiko Kobayashi, Yusaku Tazawa, +5

Human Genetics

Neonatal PresentationNeonatologyPaediatric MedicinePediatrics

Long‐term outcome and intervention of urea cycle disorders in Japan

Jun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi, +9

Journal of Inherited Metabolic Disease

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

Yusaku Tazawa, Keiko Kobayashi, Toshihiro Ohura, +9

The Journal of Pediatrics

Biliary DisorderPediatricsInfantile Cholestatic JaundiceBiliary Tract

Human cystathionine <i>β</i>-synthase cDNA: sequence, alternative splicing and expression in cultured cells

Jan P. Kraus, Manju Swaroop, Toshihiro Ohura, +4

Human Molecular Genetics

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene

Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, +10

Pediatric Research

BiochemistryNatural SciencesInherited Metabolic DiseaseLong-term TreatmentMolecular Biology +2