Citation Impact
Citing Papers
ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
2023 StandoutNobel
Algae as nutritional and functional food sources: revisiting our understanding
2016 Standout
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
2019
The mitophagy activator urolithin A is safe and induces a molecular signature of improved mitochondrial and cellular health in humans
2019 Standout
Fundamental Dimensions of Environmental Risk
2009 Standout
Chronic Glucocorticoid Therapy-Induced Osteoporosis in Patients With Obstructive Lung Disease
1999
Gonadotrophin releasing hormone agonist treatment with or without recombinant human GH in adopted children with early puberty
2001
Regulation of the Voltage Gated K<sup>+</sup> Channel K<sub>v1.3</sub> by Recombinant Human Klotho Protein
2014 Standout
The evolution of human skin coloration
2000 Standout
Discoveries in structure and physiology of mechanically activated ion channels
2020 StandoutNatureNobel
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis
2015
Acute Disseminated Encephalomyelitis Associated With Influenza A H1N1 Infection
2012
The cerebellum and cognition
2018 Standout
Diseases of glycosylation beyond classical congenital disorders of glycosylation
2012
Normal Volumetric Bone Mineral Density and Bone Turnover in Young Men with Histories of Constitutional Delay of Puberty
1998
Bone mineral density during treatment of central precocious puberty
1995
Lifetime and 12-Month Prevalence of Bipolar Spectrum Disorder in the National Comorbidity Survey Replication
2007 Standout
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
2009
Therapy of psoriasis in childhood and adolescence ‐ a German expert consensus
2011
Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes
2008
Limb bone bilateral asymmetry: variability and commonality among modern humans
2005 Standout
Dysregulation of neurotrophin signaling in the pathogenesis of Alzheimer disease and of Alzheimer disease in Down syndrome
2017
Upregulation of Na+,Cl--Coupled Betaine/ γ-Amino-Butyric Acid Transporter BGT1 by Tau Tubulin Kinase 2
2013
Axonal Transport: Cargo-Specific Mechanisms of Motility and Regulation
2014
Biological roles of glycans
2016 Standout
Cerebellar cognitive affective syndrome: insights from Joubert syndrome
2018
Mechanisms involved in the side effects of glucocorticoids
2002 Standout
Psoriasis
2015 Standout
Suggested guidelines for the diagnosis and management of urea cycle disorders
2012
Bone Mass at Final Height in Precocious Puberty after Gonadotropin-Releasing Hormone Agonist with and without Calcium Supplementation
2003
Immunopathology of multiple sclerosis
2015 Standout
The Efficacy and Safety of Gonadotropin-Releasing Hormone Analog Treatment in Childhood and Adolescence: A Single Center, Long-Term Follow-Up Study
2009
Neutrophil extracellular traps in immunity and disease
2017 Standout
Nanoparticle-assisted optical tethering of endosomes reveals the cooperative function of dyneins in retrograde axonal transport
2015 StandoutNobel
Timing of Pubertal Maturation in Girls: An Integrated Life History Approach.
2004 Standout
The phenotypes of bipolar disorder: relevance for genetic investigations
2005
Effect of central precocious puberty and gonadotropin-releasing hormone analogue treatment on peak bone mass and final height in females
1998
The serum protein α2–Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcification
2003 Standout
Consensus on women’s health aspects of polycystic ovary syndrome (PCOS): the Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group
2011 Standout
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Immunologic aspects of osteoporosis
1997
Down syndrome
2020 Standout
Arginine metabolism and nutrition in growth, health and disease
2008 Standout
Early Puberty in Adopted Children
2002
Glycoproteomics
2022 StandoutNobel
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
2019 Standout
The Complex Role of Estrogens in Inflammation
2007 Standout
Folic Acid and Creatine as Therapeutic Approaches to Lower Blood Arsenic: A Randomized Controlled Trial
2015
Sexually Transmitted Infections Treatment Guidelines, 2021
2021 Standout
Creatine: Endogenous Metabolite, Dietary, and Therapeutic Supplement
2007
Characterization of neutrophil function in Papillon-Lefèvre syndrome
2016
Growth hormone treatment during suppression of early puberty in adopted girls
1999
Treatment of central precocious puberty
2006
Human Coronaviruses and Other Respiratory Viruses: Underestimated Opportunistic Pathogens of the Central Nervous System?
2019 Standout
Cryo-EM and X-ray structures of TRPV4 reveal insight into ion permeation and gating mechanisms
2018
Acute Disseminated Encephalomyelitis
2012
Congenital Disorders of Glycosylation from a Neurological Perspective
2021
Androgens and Bone
2004
The in-depth evaluation of suspected mitochondrial disease
2008
Calcium Disorders of Pregnancy
1995
Long-Term Observation of 87 Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-Releasing Hormone Analogs: Impact on Adult Height, Body Mass Index, Bone Mineral Content, and Reproductive Function
2007
The Timing of Normal Puberty and the Age Limits of Sexual Precocity: Variations around the World, Secular Trends, and Changes after Migration
2003 Standout
Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society* Clinical Practice Guideline
2017 Standout
Bone Mineral Density, Androgens, and the Polycystic Ovary: The Complex and Controversial Issue of Androgenic Influence in Female Bone
2000
Structural insight into TRPV5 channel function and modulation
2019 StandoutNobel
Maternal-Fetal Calcium and Bone Metabolism During Pregnancy, Puerperium, and Lactation*
1997
Works of Roberta Battini being referenced
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation
2007
Cognitive, adaptive, and behavioral features in Joubert syndrome
2016
Guanidinoacetate and Creatine plus Creatinine Assessment in Physiologic Fluids: An Effective Diagnostic Tool for the Biochemical Diagnosis of Arginine:Glycine Amidinotransferase and Guanidinoacetate Methyltransferase Deficiencies
2002
Parathyroid hormone-related protein in healthy pregnant women
1994
Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene
2010
Unusual Clinical and Magnetic Resonance Imaging Findings in a Family With Proteolipid Protein Gene Mutation
2003
Characterization of seven novel mutations in seven patients with GAMT deficiency
2004
Effect of combined treatment with gonadotropin releasing hormone analogue and growth hormone in patients with central precocious puberty who had subnormal growth velocity and impaired height prognosis
1995
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease
2006
Topical application of 1,25-dihydroxyvitamin D3 (calcitriol) is an effective and reliable therapy to cure skin lesions in psoriatic children
1993
Reduction of bone density: An effect of gonadotropin releasing hormone analogue treatment in central precocious puberty
1993
RFT1 deficiency in three novel CDG patients
2009
Androgen-Receptor Blockade Does Not Impair Bone Mineral Density in Adolescent Females
1997
TRPV4 mutations in children with congenital distal spinal muscular atrophy
2012
Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance.
2004
Novel DyneinDYNC1H1Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development
2013
Short-term effect of testosterone treatment on reduced bone density in boys with constitutional delay of puberty
1995
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
2002
Brain Magnetic Resonance in the Diagnostic Evaluation of Mitochondrial Encephalopathies
2007