标题
Endocrine manifestations related to inherited metabolic diseases in adults
作者
关键词
-
出版物
Orphanet Journal of Rare Diseases
Volume 7, Issue 1, Pages 11
出版商
Springer Nature
发表日期
2012-01-31
DOI
10.1186/1750-1172-7-11
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy
- (2011) Jone López-Erauskin et al. ANNALS OF NEUROLOGY
- The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy
- (2011) Najla Mezghani et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
- (2011) R. R. Kapoor et al. DIABETOLOGIA
- Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy
- (2011) Eva K Wirth et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison’s disease improves survival and neurological outcomes
- (2011) Lynda E. Polgreen et al. EUROPEAN JOURNAL OF PEDIATRICS
- Criteria for Early Identification of Aceruloplasminemia
- (2011) Masaro Ogimoto et al. INTERNAL MEDICINE
- Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
- (2011) Jaak Jaeken JOURNAL OF INHERITED METABOLIC DISEASE
- Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)
- (2011) Ana Isabel Vega et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Potent, Selective, and Orally Available Benzoisothiazolone Phosphomannose Isomerase Inhibitors as Probes for Congenital Disorder of Glycosylation Ia
- (2011) Russell Dahl et al. JOURNAL OF MEDICINAL CHEMISTRY
- Hypoketotic Hypoglycemia with Myolysis and Hypoparathyroidism: An Unusual Association in Medium Chain Acyl-CoA Desydrogenase Deficiency (MCADD)
- (2011) J. Baruteau et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
- (2011) Bradley S. Miller et al. MOLECULAR GENETICS AND METABOLISM
- X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism
- (2011) Ying Wang et al. MOLECULAR GENETICS AND METABOLISM
- Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
- (2011) O. Z. Karicheva et al. NUCLEIC ACIDS RESEARCH
- Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
- (2011) Caroline Sevin et al. Orphanet Journal of Rare Diseases
- Role of the Mitochondria in Immune-Mediated Apoptotic Death of the Human Pancreatic β Cell Line βLox5
- (2011) Yaíma L. Lightfoot et al. PLoS One
- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
- (2011) S. B. Pierce et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
- (2010) Sarah B. Pierce et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Thyroid Function and Human Reproductive Health
- (2010) G. E. Krassas et al. ENDOCRINE REVIEWS
- Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
- (2010) Helton Estrela Ramos et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
- (2010) Tjitske Kleefstra et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literature
- (2010) Jan Marquard et al. EUROPEAN JOURNAL OF PEDIATRICS
- Sex Differences in the Development of Diabetes in Mice with Deleted Wolframin (Wfs1) Gene
- (2010) K. Noormets et al. EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
- Molecular diagnosis of genetic iron-overload disorders
- (2010) Pierre Brissot et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- The Effect of Maternal Hypothyroidism on the Carbohydrate Metabolism and Insulin Secretion of Isolated Islets in Adult Male Offspring of Rats
- (2010) H. Farahani et al. HORMONE AND METABOLIC RESEARCH
- Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
- (2010) Merel S. Ebberink et al. HUMAN MUTATION
- Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia
- (2010) Minemori Watanabe et al. INTERNAL MEDICINE
- Impaired Glucose Tolerance and Predisposition to the Fasted State in Liver Glycogen Synthase Knock-out Mice
- (2010) Jose M. Irimia et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Estrogen-related Receptor γ Is a Key Regulator of Muscle Mitochondrial Activity and Oxidative Capacity
- (2010) Shamina M. Rangwala et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Fibrotic response in fibroblasts from congenital disorders of glycosylation
- (2010) M. Rita Lecca et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
- (2010) Erik Schoenmakers et al. JOURNAL OF CLINICAL INVESTIGATION
- Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis
- (2010) Poonam Sansanwal et al. JOURNAL OF INHERITED METABOLIC DISEASE
- FSH isoform pattern in classic galactosemia
- (2010) Cynthia S. Gubbels et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis
- (2010) Ela Erdem et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Alström syndrome: insights into the pathogenesis of metabolic disorders
- (2010) Dorothée Girard et al. Nature Reviews Endocrinology
- Bone metabolism in oxalosis: a single-center study using new imaging techniques and biomarkers
- (2010) Justine Bacchetta et al. PEDIATRIC NEPHROLOGY
- Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
- (2010) Bekim Sadikovic et al. PLoS One
- Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes
- (2009) A. Hartemann-Heurtier et al. DIABETES & METABOLISM
- Gonadal function in male and female patients with classic galactosemia
- (2009) M.E. Rubio-Gozalbo et al. HUMAN REPRODUCTION UPDATE
- Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease
- (2009) Sarah E. Hopkins et al. JOURNAL OF CHILD NEUROLOGY
- The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes
- (2009) M. Laloi-Michelin et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Mitochondria and diabetes mellitus: untangling a conflictive relationship?
- (2009) M. Schiff et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Thiamine-Responsive Megaloblastic Anemia Syndrome: Long Term Follow-Up
- (2009) Caterina Borgna-Pignatti et al. JOURNAL OF PEDIATRICS
- Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome
- (2009) Jérôme Harambat et al. KIDNEY INTERNATIONAL
- Selenium Supplementation Fails to Correct the Selenoprotein Synthesis Defect in Subjects with SBP2 Gene Mutations
- (2009) Lutz Schomburg et al. THYROID
- Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1
- (2008) Silvio Ferraris et al. ARCHIVES OF NEUROLOGY
- Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study
- (2008) P. Massin et al. DIABETOLOGIA
- MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
- (2008) Suzanna Gerarda Maria Frints et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men
- (2008) Alena Buretić-Tomljanović et al. FERTILITY AND STERILITY
- Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8
- (2008) J. L. Wémeau et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability
- (2008) Alfonso Fasano et al. MOVEMENT DISORDERS
- Fertility and Impact of Pregnancies on the Mother and Child in Classic Galactosemia
- (2008) Cynthia S. Gubbels et al. OBSTETRICAL & GYNECOLOGICAL SURVEY
- Association between iron overload and osteoporosis in patients with hereditary hemochromatosis
- (2008) L. Valenti et al. OSTEOPOROSIS INTERNATIONAL
- Secondary Hypothyroidism in Hereditary Hemochromatosis: Recovery after Iron Depletion
- (2008) Martin Hudec et al. THYROID
- Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with HFE C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study
- (2008) James C. Barton et al. THYROID
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