Search Results - "Hackbarth ME"

Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy.

Authors: Resnick, Ortal Ashraf, Ambika

Source: JCEM Case Reports. Jun2026, Vol. 4 Issue 6, p1-6. 6p.

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl.

Authors: Lin, Han-Yi Lee, Ni-Chung Tsai, Meng-Ju Melody et al.

Source: Journal of Clinical Research in Pediatric Endocrinology. 2026 Suppl, Vol. 18, p6-11. 6p.

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.

Authors: Sabir MS Dobrenis K Rha AK et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Nov 08; Vol. 45, pp. 101275. Date of Electronic Publication: 2025 Nov 08 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

Authors: Bertamino, Marta Goldberg, David J. Mughal, M. Zulf et al.

Source: Orphanet Journal of Rare Diseases. 11/19/2025, Vol. 20 Issue 1, p1-12. 12p.

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).

Authors: Sabir MS Leoyklang P Hackbarth ME et al.

Source: Stem cell research [Stem Cell Res] 2024 Dec; Vol. 81, pp. 103600. Date of Electronic Publication: 2024 Oct 22.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.

Authors: Ferreira CR Kintzinger K Hackbarth ME et al.

Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2021 Nov; Vol. 36 (11), pp. 2193-2202. Date of Electronic Publication: 2021 Aug 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Generalized arterial calcification of infancy – Fetal diagnosis to postnatal management.

Authors: Kadiyani, Lamk Shivaprasad, PM Ramakrishnan, Sivasubramanian et al.

Source: Annals of Pediatric Cardiology. Sep/Oct2024, Vol. 17 Issue 5, p369-371. 3p.

Generalized arterial calcifications in a twin recipient treated with etidronate: description of a case report within a narrative review.

Authors: Corti, Carla Giuseppina Nespoli, Luisa Federica Campari, Alessandro et al.

Source: Archives of Medical Science. 2024, Vol. 20 Issue 5, p1695-1700. 6p.

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

Authors: Ralph, Douglas Nitschke, Yvonne Levine, Michael A. et al.

Source: PLoS Genetics. 4/28/2022, Vol. 18 Issue 4, p1-16. 16p.

A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.

Authors: Baptista E Hugon R Marano A et al.

Source: Current osteoporosis reports [Curr Osteoporos Rep] 2025 Aug 06; Vol. 23 (1), pp. 34. Date of Electronic Publication: 2025 Aug 06.

Publication Type: Journal Article; Review

Journal Info: Publisher: Current Science Country of Publication: United States NLM ID: 101176492 Publication Model: Electronic Cited Medium: Internet ISSN: 1544-2241 (Electronic) Linking ISSN: 15441873 NLM ISO Abbreviation: Curr Osteoporos Rep Subsets: MEDLINE

ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum?

Authors: Kauffenstein, Gilles Chappard, Daniel Leftheriotis, Georges et al.

Source: Experimental Dermatology. Oct2022, Vol. 31 Issue 10, p1635-1637. 3p.

Psychiatric symptoms in Salla disease.

Authors: Aulanko, Ida Rahikkala, Elisa Moilanen, Jukka

Source: European Child & Adolescent Psychiatry. Oct2023, Vol. 32 Issue 10, p2043-2047. 5p.

Subjects: Academic medical centers, Psychoses, Passive-aggressive personality, Retrospective studies, Acquisition of data, Lysosomal storage diseases, Risk assessment, Sleep disorders, Medical records, Descriptive statistics, Psychomotor disorders, Data analysis software, Rare diseases, Phenotypes, Antipsychotic agents, Children, Adolescence

Geographic Terms: Finland

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.

Authors: Chunn, Lauren M. Bissonnette, Jeffrey Heinrich, Stefanie V. et al.

Source: Orphanet Journal of Rare Diseases. 12/2/2022, Vol. 17 Issue 1, p1-8. 8p.

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).

Authors: Theng, Elizabeth H. Brewer, Carmen C. Oheim, Ralf et al.

Source: Orphanet Journal of Rare Diseases. 7/19/2022, Vol. 17 Issue 1, p1-10. 10p.

A previously healthy 3-year-old female with hypertension, proteinuria, and hypercalciuria.

Authors: Liu, Tao Wang, Wenhong Liu, Zhufeng et al.

Source: Pediatric Nephrology. Apr2024, Vol. 39 Issue 4, p1301-1313. 13p.

Rickets guidance: part II—management.

Authors: Haffner, Dieter Leifheit-Nestler, Maren Grund, Andrea et al.

Source: Pediatric Nephrology. Oct2022, Vol. 37 Issue 10, p2289-2302. 14p. 5 Charts.

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.

Authors: O'Brien, Christine Khursigara, Gus Huertas, Pedro et al.

Source: PLoS ONE. 7/27/2022, Vol. 17 Issue 7, p1-18. 18p.

Case Report: Delivery or not, generalized arterial calcification of infancy in China.

Authors: Guo Y Wang J Gu Y et al.

Source: Frontiers in medicine [Front Med (Lausanne)] 2026 Apr 14; Vol. 13, pp. 1761482. Date of Electronic Publication: 2026 Apr 14 (Print Publication: 2026).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

Therapeutic approaches for the treatment of genetic and acquired cardiovascular calcification.

Authors: O'Brien K Husson H Sabbagh Y

Source: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2025 Oct 07; Vol. 12, pp. 1636432. Date of Electronic Publication: 2025 Oct 07 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE

Impact of the ENPP1 mutation on bone mineralization and ectopic calcification: evidence from in vitro and in vivo models.

Authors: Wu W Liu L Shi Y et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2025 Jun 04; Vol. 16, pp. 1566392. Date of Electronic Publication: 2025 Jun 04 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE