2,287 results match your criteria Albright Syndrome

Prevalence of Polycystic Ovary Syndrome in Patients with McCune Albright Syndrome.

J Pediatr Adolesc Gynecol 2021 Jun 9. Epub 2021 Jun 9.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.

Study Objective: To identify PCOS in a population of female patients with MAS by retrospective chart review DESIGN: : Retrospective study SETTING: : Academic setting PARTICIPANTS: : All females with a prior diagnosis of MAS who were older than 12 years of age at the time of chart review. Only complete medical records from January 2009 to January 2020 were included in the analysis.

Interventions: None MAIN OUTCOME MEASURE(S): : Diagnosis of PCOS based on the Rotterdam 2003 criteria. Read More

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Safety of therapy with and withdrawal from denosumab in fibrous dysplasia and McCune-Albright syndrome: an observational study.

J Bone Miner Res 2021 Jun 2. Epub 2021 Jun 2.

Department of Internal Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.

Denosumab (Dmab) treatment can benefit patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) by suppressing the receptor activator of nuclear factor κB ligand (RANKL)-mediated increased bone resorption. However, limited data of two pediatric cases indicate that a rebound phenomenon may occur after withdrawal. Therefore we studied the safety of Dmab discontinuation in FD/MAS. Read More

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Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

J Gynecol Obstet Hum Reprod 2021 May 25;50(9):102171. Epub 2021 May 25.

INSERM U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France; Department of Pathology, CHRU de Nancy, Université de Lorraine, Nancy, France.

Background: The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. Read More

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Monostotic Fibrous Dysplasia of the Mandible in a 9-Year-Old Male Patient Treated with a Conservative Surgical Treatment: A Case Report and 15-Year Follow-Up.

Case Rep Dent 2021 3;2021:9963478. Epub 2021 May 3.

Department of Oral Medicine and Maxillofacial Radiology, Faculty of Dental Medicine, Lebanese University, Lebanon.

Fibrous dysplasia is a developmental disorder of the bone that originates from a genetic defect disturbing the osteogenesis leading to the replacement of normal bone with the excess proliferation of fibrous tissue. It can be associated with hyperpigmentation of the skin and endocrine disorders. Fibrous dysplasia can manifest in a monostotic form affecting one bone or in a polyostotic form involving several bones. Read More

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Burosumab treatment for fibrous dysplasia.

Bone 2021 May 11;150:116004. Epub 2021 May 11.

Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Background: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare mosaic disorder of Gα activation. Fibroblast Growth Factor 23 (FGF23)-mediated hypophosphatemia is a feature of FD/MAS that has been associated with poor skeletal outcomes. Standard therapy includes oral phosphorus and vitamin D analogs; however, treatment is limited by potential adverse renal and gastrointestinal effects. Read More

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Squamous Cell Carcinoma of the Lung in McCune-Albright Syndrome.

Cureus 2021 Mar 28;13(3):e14159. Epub 2021 Mar 28.

Internal Medicine, Detroit Medical Center (DMC) Harper Hospital, Detroit, USA.

McCune Albright Syndrome (MAS) is caused by a mutation in the GNAS gene that results in multiple endocrinopathies such as Cushing syndrome, acromegaly, hyperthyroidism, and precocious puberty. Despite the presence of pleiotropy coupled with a GNAS gene mutation, malignancy is a rare occurrence in MAS. There is minimal literature showcasing squamous cell carcinoma (SCC) of the lung in patients with MAS. Read More

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Jaffe Lichtenstein Type of Polyostotic Skeletal Fibrous Dysplasia With the Involvement of Cranial Bones.

J Craniofac Surg 2021 Apr 29. Epub 2021 Apr 29.

Department of Maxillofacial Radiology, Faculty of Dentistry, Yeni Yuzyil University, Istanbul Department of Orthopedics and Traumatology, Van Training and Research Hospital, Van Department of Orthopedics and Traumatology, Tepecik Training and Research Hospital Department of Maxillofacial Radiology, Faculty of Dentistry, Ege University, Izmir, Turkey.

Abstract: Fibrous dysplasia (FD), a benign fibro-osseous bone tumor commonly involving the craniofacial region, presents a wide spectrum of radiographic patterns. When FD lesions are suspected, various imaging modalities and histopathologic analyses may be required to reach a firm diagnosis. Here, the authors report the case of a 10-year-old male patient presenting with polyostotic type of FD with follow-up data for the next 9 years. Read More

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Regression of fibrous dysplasia in response to denosumab therapy: A report of two cases.

Bone Rep 2021 Jun 9;14:101058. Epub 2021 Apr 9.

Department of Internal Medicine, Division of Endocrinology, Center for Bone Quality, LUMC, Albinusdreef 2, 2333ZA Leiden, the Netherlands.

We present two patients with fibrous dysplasia who showed a decrease in lesional size and activity after denosumab therapy. Both patients also experienced a reduction in pain and bone turnover markers, which had not been accomplished during previous bisphosphonate therapy. These cases highlight the potential of denosumab to decrease lesional size in fibrous dysplasia. Read More

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Fibrous Dysplasia of the Spine-A Case Involving the Polyostotic Form Isolated to the Thoracolumbar Spine.

Int J Spine Surg 2021 Feb 29;14(s4):S46-S51. Epub 2020 Dec 29.

Department of Orthopaedics and Traumatology, Faculty of Medicine, Padjadjaran University, Bandung, Indonesia.

Fibrous dysplasia of the spine in a polyostotic form is very rare, with fewer than 36 cases discussed in the literature and there is no such case in Indonesia that has been reported. The aim of this report is to present a case from Indonesia of polyostotic fibrous dysplasia isolated in the spine. We report a case of a 38-year-old Sundanese man with a 1-year history of progressive back pain and weakness of both lower extremities. Read More

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February 2021

Immediate allograft reconstruction of the infraorbital nerve following resection of polyostotic fibrous dysplasia lesion.

Case Reports Plast Surg Hand Surg 2021 Feb 5;8(1):12-17. Epub 2021 Feb 5.

Department of Oral Maxillofacial Surgery and Pathology, School of Dentistry - University of Mississippi Medical Center, Jackson, MS, USA.

Processed nerve allografts (PNA) have increasingly been used as alternative to autogenous nerve grafts to repair nerve injuries in oral-maxillofacial surgeries. This case report describes an immediate PNA reconstruction of infraorbital nerve injury sustained during the ablation of a large expansile polyostotic fibrous dysplasia centered in the left maxilla. Read More

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February 2021

Stigma and psychological distress among pediatric participants in the FD/MAS Alliance Patient Registry.

Amanda Konradi

BMC Pediatr 2021 04 14;21(1):173. Epub 2021 Apr 14.

Department of Sociology, Loyola University Maryland, 4501 North Charles St., Baltimore, MD, 20210, USA.

Background: Stigma, both enacted and internalized, is part of the illness experience of many chronic conditions / diseases and has been found to increase psychological distress, lower self-esteem, and impact social engagement lowering quality of life (QOL). Stigma among pediatric patients is of particular concern due to its potential impact on identity formation. Using patient data from the online FD/MAS Alliance Patient Registry (FDMASAPR), this study seeks to 1) determine levels of enacted and self-stigma in a pediatric population of fibrous dysplasia (FD) / McCune Albright syndrome (MAS) patients and 2) to explore the relationship between stigma and anxiety and depression. Read More

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Precocious pseudo-puberty in a 2-year-old girl, presenting with bilateral ovarian enlargement and progressing to unilateral juvenile granulosa cell tumour.

J Clin Res Pediatr Endocrinol 2021 Apr 14. Epub 2021 Apr 14.

Glasgow University School of Medicine, Glasgow, United Kingdom.

Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A girl aged 2. Read More

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Assessing quality of life in pediatric fibrous dysplasia and McCune Albright syndrome: PEDS-QL and HADS data from the Fibrous Dysplasia Foundation Patient Registry.

Amanda Konradi

J Patient Rep Outcomes 2021 Apr 12;5(1):34. Epub 2021 Apr 12.

Department of Sociology, Loyola University Maryland, 4501 Charles St., Baltimore, MD, 21210, USA.

Purpose: The International FD/MAS Consortium recently encouraged using the Pediatric Quality of Life Inventory (PEDS-QL) and the Hospital Anxiety and Depression scales (HADS) in clinical care. This study examines scores on these measures among pediatric fibrous dysplasia and McCune Albright (FD/MAS) patients to initiate consideration of their use in clinical treatment.

Methods: This is a retrospective analysis of pediatric data from 39 minors, ages 2-17, entered in the Fibrous Dysplasia Foundation Patient Registry from July 2016 to December 2018. Read More

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Hepatic transcriptional profile reveals the role of diet and genetic backgrounds on metabolic traits in female progenitor strains of the Collaborative Cross.

Physiol Genomics 2021 May 5;53(5):173-192. Epub 2021 Apr 5.

Department of Nutrition, University of California, Davis, California.

Mice have provided critical mechanistic understandings of clinical traits underlying metabolic syndrome (MetSyn) and susceptibility to MetSyn in mice is known to vary among inbred strains. We investigated the diet- and strain-dependent effects on metabolic traits in the eight Collaborative Cross (CC) founder strains (A/J, C57BL/6J, 129S1/SvImJ, NOD/ShiLtJ, NZO/HILtJ, CAST/EiJ, PWK/PhJ, and WSB/EiJ). Liver transcriptomics analysis showed that both atherogenic diet and host genetics have profound effects on the liver transcriptome, which may be related to differences in metabolic traits observed between strains. Read More

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Genetics of Acromegaly and Gigantism.

J Clin Med 2021 Mar 29;10(7). Epub 2021 Mar 29.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (, , , , , , , ) as well as familial cases with currently unknown genes, while somatic mutations in are present in up to 40% of tumours. Read More

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Denosumab reduces lesional Fluoride skeletal burden on Na[18F]F PET-CT in patients with Fibrous Dysplasia/McCune-Albright syndrome.

J Clin Endocrinol Metab 2021 Mar 31. Epub 2021 Mar 31.

Center for Bone Quality, dept. of Internal Medicine, division of Endocrinology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

Context: The correlation between Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS) skeletal disease burden on Na[18F]F-PET-CT and serum bone turnover markers (BTMs) was recently described. The effect of treatment on lesional fluoride burden in FD/MAS is unknown.

Objective: To investigate treatment response measurements in FD/MAS patients who underwent Na[18F]F-PET-CT and treatment with antiresorptives. Read More

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Hereditary and Sporadic Pancreatic Ductal Adenocarcinoma: Current Update on Genetics and Imaging.

Radiol Imaging Cancer 2020 03 13;2(2):e190020. Epub 2020 Mar 13.

Departments of Diagnostic Radiology (A.C.M., A.K.H., S.Y., S.R.P.) and Pathology (N.S.R.), The University of Texas MD Anderson Cancer Center, 1400 Pressler St, Unit 1473, Houston, TX 77030-4009; Department of Radiology, University of Texas at San Antonio, San Antonio, Tex (V.S.K.); and Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.K.D.).

Pancreatic ductal adenocarcinoma (PDAC) is a genetically heterogeneous, biologically aggressive malignancy with a uniformly poor prognosis. While most pancreatic cancers arise sporadically, a small subset of PDACs develop in patients with hereditary and familial predisposition. Detailed studies of the rare hereditary syndromes have led to identification of specific genetic abnormalities that contribute to malignancy. Read More

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Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Front Endocrinol (Lausanne) 2021 12;12:632543. Epub 2021 Mar 12.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.

The genetic alterations that cause the development of glucocorticoid and/or mineralocorticoid producing benign adrenocortical tumors and hyperplasias have largely been elucidated over the past two decades through advances in genomics. In benign aldosterone-producing adrenocortical tumors and hyperplasias, alteration of intracellular calcium signaling has been found to be significant in aldosterone hypersecretion, with causative defects including those in , and In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in , and being implicated. The role of this signaling pathway in the development of Cushing's syndrome and adrenocortical tumors was initially discovered through the study of the underlying genetic defects causing the rare multiple endocrine neoplasia syndromes McCune-Albright syndrome and Carney complex with subsequent identification of defects in genes affecting the cyclic adenosine monophosphate-protein kinase A pathway in sporadic tumors. Read More

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Denosumab for craniofacial fibrous dysplasia: duration of efficacy and post-treatment effects.

Osteoporos Int 2021 Mar 27. Epub 2021 Mar 27.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Denosumab has been advocated as a potential treatment for the rare skeletal disorder fibrous dysplasia (FD); however, there is limited data to support safety and efficacy, particularly after drug discontinuation. We report a case of successful treatment of aggressive craniofacial FD with denosumab, highlighting novel insights into the duration of efficacy, surrogate treatment markers, and discontinuation effects. A 13-year-old girl presented with persistent pain and expansion of a maxillary FD lesion, which was not responsive to repeated surgical procedures or bisphosphonates. Read More

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Neonatal cholestasis can be the first symptom of McCune-Albright syndrome: A case report.

World J Clin Pediatr 2021 Mar 9;10(2):7-14. Epub 2021 Mar 9.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.

Background: McCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the gene. It is characterized by the clinical triad of fibrous dysplasia, café-au-lait skin spots, and endocrinological dysfunction. Myriad complications in MAS, including hepatobiliary manifestations, are also reported. Read More

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Phenobarbital Versus Lorazepam for Management of Alcohol Withdrawal Syndrome: A Retrospective Cohort Study.

Cureus 2021 Feb 11;13(2):e13282. Epub 2021 Feb 11.

Internal Medicine, St. Joseph Mercy Ann Arbor Hospital, Ann Arbor, USA.

Introduction  Annually, 500,000 episodes of alcohol withdrawal syndrome (AWS) are severe enough to require clinical attention. A symptom-triggered lorazepam regimen remains the standard of care for the management of hospitalized AWS patients. However, phenobarbital has also been shown to be an effective adjunctive therapy for severe AWS, reducing benzodiazepine use in the emergency department (ED) and the intensive care unit (ICU). Read More

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February 2021

A patient with neonatal cholestasis.

J Mother Child 2021 Mar 9. Epub 2021 Mar 9.

Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium.

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic variant. Read More

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Jawbone fibrous dysplasia: retrospective evaluation in a cases series surgically treated and short review of the literature.

Acta Biomed 2020 10 13;92(1):e2021018. Epub 2020 Oct 13.

Department of Neurosciences, Section of Otolaryngology and Regional Centre for Head and Neck Cancer, University of Padova, Treviso, Italy; Department of Surgery, Oncology and Gastroenterology, Section of Oncology and Immunology, University of Padova, Padova, Italy.

Background And Aim Of The Work: Fibrous dysplasia is a fibro-osseous osteopathy in which the normal bone architecture is replaced by fibrous tissue and non-functional trabeculae-like osseous structures. In head and neck area monostotic or polyostotic lesions cause a progressively expanding destructive bone swelling producing cosmetic deformities and functional impairments. The aim of this article is to present a retrospective review of a clinical case series with pathologically confirmed jawbone fibrous dysplasia for over an 8-year-period. Read More

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October 2020

Denosumab Treatment for Giant Cell Tumors, Aneurysmal Bone Cysts, and Fibrous Dysplasia-Risks and Benefits.

Curr Osteoporos Rep 2021 Apr 22;19(2):141-150. Epub 2021 Feb 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Building 30 Room 228 MSC 4320, Bethesda, MD, 20892, USA.

Purpose Of Review: This review summarizes current understanding of the role of denosumab, an inhibitor of receptor activator of nuclear kappa-B ligand (RANKL), in the management of 3 skeletal neoplasms: giant cell tumors, aneurysmal bone cysts, and fibrous dysplasia.

Recent Findings: A growing body of literature supports denosumab use in giant cell tumors, a neoplasm in which RANKL plays a clear pathogenic role. Comparatively less data is available in aneurysmal bone cysts and fibrous dysplasia; however, the pathogenic similarity of these disorders to giant cell tumors, as well as encouraging preliminary data, suggests denosumab may be useful. Read More

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Higher severe acute respiratory syndrome coronavirus 2 infection rate in pregnant patients.

Am J Obstet Gynecol 2021 Feb 16. Epub 2021 Feb 16.

Department of Obstetrics & Gynecology, University of Washington, Seattle, WA.

Background: During the early months of the coronavirus disease 2019 pandemic, risks associated with severe acute respiratory syndrome coronavirus 2 in pregnancy were uncertain. Pregnant patients can serve as a model for the success of clinical and public health responses during public health emergencies as they are typically in frequent contact with the medical system. Population-based estimates of severe acute respiratory syndrome coronavirus 2 infections in pregnancy are unknown because of incomplete ascertainment of pregnancy status or inclusion of only single centers or hospitalized cases. Read More

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February 2021

[Craniofacial fibrous dysplasia: about six cases].

Pan Afr Med J 2020 25;37:271. Epub 2020 Nov 25.

Département d´Imagerie Médicale, Hôpital Principal de Dakar, Dakar, Sénégal.

Fibrous dysplasia (FD) of bone is a benign, congenital and rare disease in which normal bone is replaced by fibrous bone tissue, resulting in bone deformities. It can affect any bone in the body, however craniofacial fibrous dysplasia is characterized by specific clinical manifestations, progression and therapeutic issues. The purpose of our study was to describe the diagnostic, therapeutic and evolutionary features of craniofacial FD. Read More

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February 2021

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.

Neurosci Biobehav Rev 2021 May 10;124:267-290. Epub 2021 Feb 10.

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, 02478, USA. Electronic address:

For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain across a set of ten rare, noninfectious, noncancerous disorders; Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Achondroplasia, Fibrodysplasia Ossificans Progressiva, Fibrous Dysplasia/McCune-Albright Syndrome, Complex Regional Pain Syndrome, Duchenne Muscular Dystrophy, Infantile- and Late-Onset Pompe disease, Charcot-Marie-Tooth Disease, and Amyotrophic Lateral Sclerosis. Through the integration of natural history, cross-sectional, retrospective, clinical trials, & case studies we described pathologic and genetic factors, pain sources, phenotypes, and lastly, existing therapeutic approaches. Read More

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The clinical aspects of pituitary tumour genetics.

Endocrine 2021 Mar 4;71(3):663-674. Epub 2021 Feb 4.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

Background: Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality. While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated pituitary adenoma, related to AIP or X-linked acrogigantism], or in a syndromic disorder, such as multiple endocrine neoplasia type 1 or 4, Carney complex, McCune-Albright syndrome, phaeochromocytoma/paraganglioma with pituitary adenoma, DICER1 syndrome, Lynch syndrome, and USP8-related syndrome. Genetically determined pituitary tumours usually present at younger age and show aggressive behaviour, and are often resistant to different treatment modalities. Read More

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Disease severity, pregnancy outcomes, and maternal deaths among pregnant patients with severe acute respiratory syndrome coronavirus 2 infection in Washington State.

Am J Obstet Gynecol 2021 Jan 27. Epub 2021 Jan 27.

Department of Obstetrics and Gynecology, Vancouver Clinic, Vancouver, WA.

Background: Evidence is accumulating that coronavirus disease 2019 increases the risk of hospitalization and mechanical ventilation in pregnant patients and for preterm delivery. However, the impact on maternal mortality and whether morbidity is differentially affected by disease severity at delivery and trimester of infection are unknown.

Objective: This study aimed to describe disease severity and outcomes of severe acute respiratory syndrome coronavirus 2 infections in pregnancy across the Washington State, including pregnancy complications and outcomes, hospitalization, and case fatality. Read More

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January 2021

Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome.

J Clin Endocrinol Metab 2021 Apr;106(5):1482-1490

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA.

Context: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and disability. There are no targeted or effective therapies to alter the disease course. Disease arises from somatic gain-of-function variants at the R201 codon in GNAS, replacing arginine by either cysteine or histidine. Read More

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