相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency
Anna-Theresa Mellis et al.
FRONTIERS IN GENETICS (2021)
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation
Yu Abe et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2021)
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency
Albert L. Misko et al.
NEUROLOGY-GENETICS (2020)
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature
M. C. Alonzo Martinez et al.
APPLICATION OF CLINICAL GENETICS (2020)
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Barbara Scelsa et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
S-Sulfocysteine Induces Seizure-Like Behaviors in Zebrafish
Jennifer Plate et al.
FRONTIERS IN PHARMACOLOGY (2019)
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in III Infants
Stephen F. Kingsmore et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models
Angela T. S. Wyse et al.
NEUROTOXICITY RESEARCH (2019)
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
Fady Hannah-Shmouni et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2019)
Isolated sulfite oxidase deficiency
Helena Claerhout et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
Simon Julius Mayr et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency
Avadh Kumar et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
Critical appraisal of genotype assessment in molybdenum cofactor deficiency
Katrin Hinderhofer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene
Jan G. M. Huijmans et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients
Maha S. Zaki et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2016)
Molybdenum cofactor deficiency
Paldeep S. Atwal et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency
Konstantin Mechler et al.
GENETICS IN MEDICINE (2015)
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
Bernd C. Schwahn et al.
LANCET (2015)
Sulfite disrupts brain mitochondrial energy homeostasis and induces mitochondrial permeability transition pore opening via thiol group modification
Mateus Grings et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)
Early Features in Neuroimaging of Two Siblings With Molybdenum Cofactor Deficiency
Ryuzo Higuchi et al.
PEDIATRICS (2014)
Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)
Erhan Bayram et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans
Kimiyoshi Ichida et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
Philippa B. Mills et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP
Marrit M. Hitzert et al.
PEDIATRICS (2012)
A GPHN point mutation leading to molybdenum cofactor deficiency
J. Reiss et al.
CLINICAL GENETICS (2011)
Molybdenum Cofactor Deficiency: Mutations in GPHN, MOCS1, and MOCS2
Jochen Reiss et al.
HUMAN MUTATION (2011)
Prenatal Brain Disruption in Molybdenum Cofactor Deficiency
Nirit Carmi-Nawi et al.
JOURNAL OF CHILD NEUROLOGY (2011)
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
Hakan Gumus et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP
Alex Veldman et al.
PEDIATRICS (2010)
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency
M. Arenas et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase
Rita Hahnewald et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
S Leimkühler et al.
HUMAN GENETICS (2005)
Isolated sulfite oxidase deficiency: A case report with a novel mutation and review of the literature
WH Tan et al.
PEDIATRICS (2005)
A mechanism of sulfite neurotoxicity - Direct inhibition of glutamate dehydrogenase
X Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
J Reiss et al.
HUMAN MUTATION (2003)
分享论文
