Cover Image

Familial hypocalciuric hypercalcemia as a differential diagnosis of primary hyperparathyroidism with negative images

Fuente: Redalyc

Saved in:

Bibliographic Details
Main Author:	Edwin Antonio Wandurraga-Sánchez
Format:	Artículo científico
Language:	en
Published:	Universidad Autónoma de Bucaramanga 2021
Subjects:	Medicina Primary Genetics Cinacalcet Case Reports Hypercalcemia
Online Access:	Acceder al recurso 1 Acceder al recurso 2 Acceder al recurso 3 Acceder al recurso 4 Acceder al recurso 5 Acceder al recurso 6
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Evaluación retrospectiva de la efectividad y seguridad de cinacalcet para el tratamiento de hiperparatiroidismo secundario dependiendo del valor basal de paratohormona intacta
by: G. Mercadal Orfila
Published: (2012)

Hepatic metastasis of a parathyroid carcinoma treated with intra-arterial embolization
by: Angélica María González-Clavijo
Published: (2017)

Primary Hyperparathyroidism: Series of 83 Cases
by: Gorgi K, et al.
Published: (2025)

USO DE CINACALCET EN EL TRATAMIENTO DEL HIPERPARATIROIDISMO PERSISTENTE POST-TRASPLANTE RENAL. EXPERIENCIA EN UN CENTRO DE ARGENTINA
by: Jorge Camacho
Published: (2014)

Efecto del seguimiento farmacoterapéutico en pacientes con hiperparatiroidismo secundario tratados con cinacalcet
by: C. Chemello
Published: (2012)

Novel MYH11 Splice Site Variant Causing Exon Skipping in a Family With Thoracic Aortic Aneurysms and Dissections
by: Aria Atash, et al.
Published: (2026)

Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant
by: Mariya Al Hinai, et al.
Published: (2026)

Phenotype‐Genotype Discordance and a Case of a Disorder of Sexual Differentiation
by: Madeline Snipes, et al.
Published: (2024)

A Case of Nonimmune Hydrops Fetalis With a Duct‐Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome
by: Rameshwar Prasad, et al.
Published: (2026)

Identification of a Novel DNAAF3 Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)
by: Mirja M. Wirtz, et al.
Published: (2026)

A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case
by: Jose G. Acuña-Ochoa, et al.
Published: (2024)

Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia
by: Liora H. Feshbach, et al.
Published: (2025)

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
by: Inusha Panigrahi, et al.
Published: (2024)

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants
by: Emily S. Levine, et al.
Published: (2025)

A Case Highlighting the Importance of Timely Intervention for a Male With AZFb + c Microdeletion
by: Rahul Atodaria, et al.
Published: (2026)

Correction to “Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India”
Published: (2025)

MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2
by: Andrea A. Arcari, et al.
Published: (2025)

Diaphragmatic Hernia in a Newborn With COL1A1‐Associated Classical Ehlers–Danlos Syndrome
by: Laven Anand, et al.
Published: (2025)

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome
by: Débora Romeo Bertola, et al.
Published: (2025)

Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
by: Leena Rawal, et al.
Published: (2025)

Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report
by: Rebeca Méndez-Veras, et al.
Published: (2025)

A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro‐Costo‐Mandibular Syndrome
by: Elizabeth Slear, et al.
Published: (2026)

Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening
by: Kara Rogen, et al.
Published: (2025)

A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature
by: Surasak Puvabanditsin, et al.
Published: (2024)

Corrigendum to “A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature”
Published: (2025)

Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis
by: Fiona Whitaker, et al.
Published: (2024)

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report
by: Hasan Hasan, et al.
Published: (2025)

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling
by: Breanna Beers, et al.
Published: (2026)

A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report
by: Genevieve R. Mazza, et al.
Published: (2025)

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report
by: Randah Abdullah Dahlan, et al.
Published: (2025)

A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report
by: Catherine Kentros, et al.
Published: (2025)

An Unexpected Case of Somatic Mosaicism of the Dutch p16‐ Leiden Founder Variant in the CDKN2A Gene
by: M. van der Meulen, et al.
Published: (2025)

RAPSN ‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
by: Laura Keehan, et al.
Published: (2025)

Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns
by: Lauren M. Iacono, et al.
Published: (2026)

Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau Syndrome
by: Masaki Miura, et al.
Published: (2026)

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report
by: Ursula Abu Nahla, et al.
Published: (2026)

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis
by: Daigo Nishijo, et al.
Published: (2024)

Rare Presentation of Homozygous S LC20A2 Mutations Causing Intra‐Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature
by: Laila Baker, et al.
Published: (2025)

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report
by: Esther Levy, et al.
Published: (2026)

Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes
by: Akhila Vadivelan, et al.
Published: (2025)