Search Results - "Almes M"

Unusual osseous presentation of Wilson disease in a child.

Authors: Almes, M. Gonzales, E. Hermeziu, B. et al.

Source: Archives de Pédiatrie. Dec2017, Vol. 24 Issue 12, p1324-1327. 4p.

Classical osseous lesions leading to an unsuspected diagnosis.

Authors: Almes, M. Gonzales, E. Hermeziu, B. et al.

Source: Archives de Pédiatrie. Dec2017, Vol. 24 Issue 12, p1278-1280. 3p.

Serum bile acid levels predict the development of portal hypertension and high-risk esophageal varices following successful Kasai in biliary atresia.

Authors: Grimaud E Gardin A Ackermann O et al.

Source: Hepatology (Baltimore, Md.) [Hepatology] 2026 Jul 01; Vol. 84 (1), pp. 117-128. Date of Electronic Publication: 2025 Oct 23.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

The Natural History of Gastroesophageal Varices in Children With Portal Hypertension.

Authors: Ackermann O Bernard O Franchi-Abella S et al.

Source: Gastroenterology [Gastroenterology] 2026 Jan; Vol. 170 (1), pp. 188-198. Date of Electronic Publication: 2025 Jul 16.

Publication Type: Journal Article

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.

Authors: Guida L Gardin A James S et al.

Source: Neurosurgical focus [Neurosurg Focus] 2025 Jan 01; Vol. 58 (1), pp. E6.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 100896471 Publication Model: Print Cited Medium: Internet ISSN: 1092-0684 (Electronic) Linking ISSN: 10920684 NLM ISO Abbreviation: Neurosurg Focus Subsets: MEDLINE

Hepatic Peliosis due to Azathioprine in a Pediatric Kidney Transplant Recipient.

Authors: Mouche A Parmentier C Almes M et al.

Source: Case reports in hepatology [Case Reports Hepatol] 2025 Nov 14; Vol. 2025, pp. 8752052. Date of Electronic Publication: 2025 Nov 14 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101622103 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6587 (Print) Linking ISSN: 20906595 NLM ISO Abbreviation: Case Reports Hepatol Subsets: PubMed not MEDLINE

Electroencephalogram in children with hepatic encephalopathy: towards a new classification?

Authors: Taussig D Dussaule C Jacquemin E et al.

Source: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2025 Nov; Vol. 179, pp. 2111000. Date of Electronic Publication: 2025 Sep 05.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 100883319 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8952 (Electronic) Linking ISSN: 13882457 NLM ISO Abbreviation: Clin Neurophysiol Subsets: MEDLINE

Increased incidence of seronegative autoimmune hepatitis in children during SARS-CoV-2 pandemia period.

Authors: Schmutz M Chartier S Leblanc T et al.

Source: Frontiers in immunology [Front Immunol] 2024 Sep 11; Vol. 15, pp. 1445610. Date of Electronic Publication: 2024 Sep 11 (Print Publication: 2024).

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.

Authors: Thébaut A Aumar M Gardin A et al.

Source: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2024 May; Vol. 78 (5), pp. 1203-1204. Date of Electronic Publication: 2024 Mar 01.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.

Authors: Gaigne LP Besnard C Debeaupuis O et al.

Source: Gastro hep advances [Gastro Hep Adv] 2025 Sep 16; Vol. 5 (1), pp. 100808. Date of Electronic Publication: 2025 Sep 16 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc on behalf of the AGA Institute Country of Publication: Netherlands NLM ID: 9918350485906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2772-5723 (Electronic) Linking ISSN: 27725723 NLM ISO Abbreviation: Gastro Hep Adv Subsets: PubMed not MEDLINE

∆⁴-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

Authors: Gardin A Ruiz M Beime J et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 07; Vol. 18 (1), pp. 383. Date of Electronic Publication: 2023 Dec 07.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.

Authors: Mareux E Lapalus M Amzal R et al.

Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2020 Aug; Vol. 40 (8), pp. 1917-1925. Date of Electronic Publication: 2020 Jun 08.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: MEDLINE

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome.

Authors: Almes M Gardin A Davit-Spraul A et al.

Source: JPGN reports [JPGN Rep] 2023 Jul 17; Vol. 4 (3), pp. e338. Date of Electronic Publication: 2023 Jul 17 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101773885 Publication Model: eCollection Cited Medium: Internet ISSN: 2691-171X (Electronic) Linking ISSN: 2691171X NLM ISO Abbreviation: JPGN Rep Subsets: PubMed not MEDLINE

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Authors: Gonzales E Gardin A Almes M et al.

Source: JHEP reports : innovation in hepatology [JHEP Rep] 2023 Jul 13; Vol. 5 (10), pp. 100844. Date of Electronic Publication: 2023 Jul 13 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101761237 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-5559 (Electronic) Linking ISSN: 25895559 NLM ISO Abbreviation: JHEP Rep Subsets: PubMed not MEDLINE

Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2.

Authors: Almes M Jobert A Lapalus M et al.

Source: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2020 Jun; Vol. 70 (6), pp. e139-e140.

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

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.

Authors: Mareux E Lapalus M Ben Saad A et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2022 Sep 15; Vol. 23 (18). Date of Electronic Publication: 2022 Sep 15.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Authors: Almes M Spraul A Ruiz M et al.

Source: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2022 May 07; Vol. 12 (5). Date of Electronic Publication: 2022 May 07.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE

Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.

Authors: Amzal R Thébaut A Lapalus M et al.

Source: Hepatology (Baltimore, Md.) [Hepatology] 2021 Apr; Vol. 73 (4), pp. 1449-1463.

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

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

Population-based registries using multidisciplinary reporters: a method for the study of pediatric neurologic disorders.

Authors: Kozinetz CA Skender ML MacNaughton NL et al.

Source: Journal of clinical epidemiology [J Clin Epidemiol] 1995 Aug; Vol. 48 (8), pp. 1069-76.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 8801383 Publication Model: Print Cited Medium: Print ISSN: 0895-4356 (Print) Linking ISSN: 08954356 NLM ISO Abbreviation: J Clin Epidemiol Subsets: MEDLINE

Epidemiology of Rett syndrome: a population-based registry.

Authors: Kozinetz CA Skender ML MacNaughton N et al.

Source: Pediatrics [Pediatrics] 1993 Feb; Vol. 91 (2), pp. 445-50.

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

Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Print ISSN: 0031-4005 (Print) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE