{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:20:22Z","timestamp":1761862822741,"version":"3.44.0"},"reference-count":83,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1016\/j.ando.2008.12.007","type":"journal-article","created":{"date-parts":[[2009,2,11]],"date-time":"2009-02-11T05:00:49Z","timestamp":1234328449000},"page":"25-42","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Hypoglyc\u00e9mies et manifestations endocriniennes des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme chez l\u2019adulte"],"prefix":"10.1016","volume":"70","author":[{"given":"M.-C.","family":"Vantyghem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Mention","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Dobbelaere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Douillard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2008.12.007_bib1","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.3748\/wjg.v13.i18.2541","article-title":"Glycogen storage diseases: new perspectives","volume":"13","author":"Ozen","year":"2007","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.ando.2008.12.007_bib2","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1016\/j.transproceed.2006.10.160","article-title":"Successful staged kidney and liver transplantation for glycogen storage disease type\u00a0Ib: a case report","volume":"38","author":"Martin","year":"2006","journal-title":"Transplant Proc"},{"key":"10.1016\/j.ando.2008.12.007_bib3","doi-asserted-by":"crossref","first-page":"2675","DOI":"10.1210\/jc.2004-0890","article-title":"Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type\u00a0I","volume":"90","author":"Mundy","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib4","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1515\/JPEM.2005.18.6.617","article-title":"J Secondary diabetes mellitus: late complication of glycogen storage disease type\u00a01b","volume":"18","author":"Spiegel","year":"2005","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib5","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1002\/humu.9426","article-title":"Hepatic and neuromuscular forms of glycogenosis type\u00a0III: nine mutations in AGL","volume":"27","author":"Lucchiari","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ando.2008.12.007_bib6","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1007\/s10545-007-0499-9","article-title":"High frequency of missense mutations in glycogen storage disease type\u00a0VI","volume":"30","author":"Beauchamp","year":"2007","journal-title":"J Inherit Metab Dis"},{"issue":"Suppl. 1","key":"10.1016\/j.ando.2008.12.007_bib7","doi-asserted-by":"crossref","first-page":"S97","DOI":"10.1007\/s00431-002-1013-x","article-title":"Contraception and pregnancy in women affected by glycogen storage diseases","volume":"161","author":"Mairovitz","year":"2002","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib8","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1023\/A:1005556207210","article-title":"Recognition and management of fatty acid oxidation defects: a series of 107 patients","volume":"22","author":"Saudubray","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib9","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1002\/ana.20280","article-title":"3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy","volume":"56","author":"Bischof","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ando.2008.12.007_bib10","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1086\/519219","article-title":"A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency","volume":"81","author":"He","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ando.2008.12.007_bib11","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1183\/09031936.06.00139205","article-title":"Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure","volume":"28","author":"Tong","year":"2006","journal-title":"Eur Respir J"},{"key":"10.1016\/j.ando.2008.12.007_bib12","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1007\/s10545-005-0190-y","article-title":"Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting","volume":"28","author":"Engbers","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib13","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1067\/mpd.2003.231","article-title":"Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement","volume":"142","author":"den Boer","year":"2003","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib14","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/s00431-002-1035-4","article-title":"Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome","volume":"162","author":"Schwab","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib15","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.ymgme.2004.02.004","article-title":"Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency","volume":"82","author":"Bennett","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib16","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/s10545-006-0480-z","article-title":"Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency","volume":"30","author":"Worthington","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib17","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1007\/s10545-007-0518-x","article-title":"Prospective treatment in carnitine-acylcarnitine translocase deficiency","volume":"30","author":"Pierre","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib18","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1007\/BF03022621","article-title":"Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency","volume":"53","author":"Lilker","year":"2006","journal-title":"Can J Anaesth"},{"key":"10.1016\/j.ando.2008.12.007_bib19","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s10545-006-0376-y","article-title":"Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants","volume":"29","author":"Vijay","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib20","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1373\/clinchem.2007.098988","article-title":"Hyperinsulinism in infancy and childhood: when an insulin level is not always enough","volume":"54","author":"Palladino","year":"2008","journal-title":"Clin Chem"},{"key":"10.1016\/j.ando.2008.12.007_bib21","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00431-007-0600-2","article-title":"What's new in metabolic and genetic hypoglycaemias: diagnosis and management","volume":"167","author":"Valayannopoulos","year":"2008","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib22","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1023\/A:1005675827612","article-title":"Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis","volume":"23","author":"Saudubray","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib23","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.2337\/dc06-2327","article-title":"Coexistence in the same family of both focal and diffuse forms of hyperinsulinism","volume":"30","author":"Valayannopoulos","year":"2007","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ando.2008.12.007_bib24","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.2337\/dc07-2059","article-title":"Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene","volume":"31","author":"Gussinyer","year":"2008","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ando.2008.12.007_bib25","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.humpath.2007.09.010","article-title":"Adult diffuse nesidioblastosis: genetically or environmentally induced?","volume":"39","author":"Kl\u00f6ppel","year":"2008","journal-title":"Hum Pathol"},{"key":"10.1016\/j.ando.2008.12.007_bib26","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.surg.2006.04.015","article-title":"Diffuse nesidioblastosis as a cause of hyperinsulinemic hypoglycemia in adults: a diagnostic and therapeutic challenge","volume":"141","author":"Raffel","year":"2007","journal-title":"Surgery"},{"key":"10.1016\/j.ando.2008.12.007_bib27","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/ajmg.c.30143","article-title":"Clinical features in adults with congenital disorders of glycosylation type\u00a0Ia (CDG-Ia)","volume":"15","author":"Krasnewich","year":"2007","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.ando.2008.12.007_bib28","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1023\/A:1024044017385","article-title":"Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms","volume":"26","author":"Penel-Capelle","year":"2003","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib29","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1002\/ajmg.a.31796","article-title":"CDG-Id in two siblings with partially different phenotypes","volume":"143A","author":"Kranz","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ando.2008.12.007_bib30","doi-asserted-by":"crossref","first-page":"4371","DOI":"10.1210\/jc.2005-0250","article-title":"Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia","volume":"90","author":"Sun","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib31","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ando.2007.09.002","article-title":"Doctor, my son is so tired, about a case of hereditary fructose intolerance","volume":"68","author":"Guery","year":"2007","journal-title":"Ann Endocrinol (Paris)"},{"key":"10.1016\/j.ando.2008.12.007_bib32","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1007\/s10545-007-0606-y","article-title":"Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency","volume":"30","author":"Krishnamurthy","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib33","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s10545-005-5517-1","article-title":"Hyperinsulinism in tyrosinaemia type\u00a0I","volume":"28","author":"Baumann","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib34","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1007\/s10545-005-4545-1","article-title":"Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation","volume":"28","author":"Oude Luttikhuis","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib35","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ymgme.2005.09.009","article-title":"Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency","volume":"87","author":"de Wit","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib36","first-page":"249","article-title":"Diagnosis and treatment of biotinidase deficiency-clinical study of six patients","volume":"41","author":"Yang","year":"2003","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.ando.2008.12.007_bib37","first-page":"129","article-title":"Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis","volume":"27","author":"Hou","year":"2004","journal-title":"Chang Gung Med J"},{"key":"10.1016\/j.ando.2008.12.007_bib38","first-page":"53","article-title":"Whipple's triad as a clinical manifestation of hepatolenticular degeneration","volume":"117","author":"Krisiak","year":"2007","journal-title":"Pol Arch Med Wewn"},{"key":"10.1016\/j.ando.2008.12.007_bib39","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1086\/520960","article-title":"Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells","volume":"81","author":"Otonkoski","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ando.2008.12.007_bib40","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1016\/S0755-4982(05)84197-1","article-title":"Iron overload and insulin resistance","volume":"34","author":"Vantyghem","year":"2005","journal-title":"Presse Med"},{"key":"10.1016\/j.ando.2008.12.007_bib41","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/mds.21938","article-title":"Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability","volume":"15","author":"Fasano","year":"2008","journal-title":"Mov Disord"},{"key":"10.1016\/j.ando.2008.12.007_bib42","doi-asserted-by":"crossref","first-page":"113","DOI":"10.2337\/diab.45.2.113","article-title":"Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit","volume":"45","author":"Gerbitz","year":"1996","journal-title":"Diabetes"},{"key":"10.1016\/j.ando.2008.12.007_bib43","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1177\/088307380001501108","article-title":"Endocrine disorders in two sisters affected by MELAS syndrome","volume":"15","author":"Balestri","year":"2000","journal-title":"J Child Neurol"},{"key":"10.1016\/j.ando.2008.12.007_bib44","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jnnp.52.1.122","article-title":"Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency","volume":"52","author":"Doriguzzi","year":"1989","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.ando.2008.12.007_bib45","doi-asserted-by":"crossref","first-page":"583","DOI":"10.2337\/diacare.18.4.583","article-title":"DIDMOAD or Wolfram syndrome. A mitochondrial-mediated disorder","volume":"18","author":"Bezold","year":"1995","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ando.2008.12.007_bib46","first-page":"CR767","article-title":"Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation)","volume":"8","author":"Pronicki","year":"2002","journal-title":"Med Sci Monit"},{"key":"10.1016\/j.ando.2008.12.007_bib47","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1750-1172-2-49","article-title":"Alstrom syndrome (OMIM 203800): a case report and literature review","volume":"21","author":"Joy","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"Suppl. 1","key":"10.1016\/j.ando.2008.12.007_bib48","doi-asserted-by":"crossref","first-page":"S38","DOI":"10.1007\/s00431-003-1349-x","article-title":"Early oral cysteamine therapy for nephropathic cystinosis","volume":"162","author":"Gahl","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib49","doi-asserted-by":"crossref","unstructured":"Bouyahia 0, Ouderni M, Ben Mansour F, Matoussi N, Khaldi F. Diabetic ketoacidosis revealing thimine responsive megaloblastic anemia Ann Endocrinol (Paris) 2009 in press.","DOI":"10.5339\/qmj.2008.2.19"},{"key":"10.1016\/j.ando.2008.12.007_bib50","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1365-2265.1992.tb02289.x","article-title":"Endocrine dysfunction in Kearns-Sayre syndrome","volume":"37","author":"Harvey","year":"1992","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ando.2008.12.007_bib51","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/ana.410390612","article-title":"MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy","volume":"39","author":"Ohno","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ando.2008.12.007_bib52","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s11255-006-9172-8","article-title":"Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient","volume":"39","author":"Lau","year":"2007","journal-title":"Int Urol Nephrol"},{"key":"10.1016\/j.ando.2008.12.007_bib53","doi-asserted-by":"crossref","first-page":"4319","DOI":"10.1210\/jc.2006-0858","article-title":"Endocrine dysfunction in patients with Fabry disease","volume":"91","author":"Faggiano","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib54","article-title":"Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type\u00a0I","volume":"15","author":"Melis","year":"2007","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib55","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1089\/thy.2007.0140","article-title":"Secondary hypothyroidism in hereditary hemochromatosis: recovery after iron depletion","volume":"18","author":"Hudec","year":"2008","journal-title":"Thyroid"},{"key":"10.1016\/j.ando.2008.12.007_bib56","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1089\/thy.2008.0091","article-title":"Hemochromatosis and Iron Overload Screening Study Research Investigators. Thyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y homozygosity, a common hemochromatosis genotype: the HEIRS study","volume":"18","author":"Barton","year":"2008","journal-title":"Thyroid"},{"key":"10.1016\/j.ando.2008.12.007_bib57","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0022-3476(00)70112-0","article-title":"Hypothyroidism in primary hyperoxaluria type\u00a01","volume":"136","author":"Frishberg","year":"2000","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib58","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1159\/000086357","article-title":"Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type\u00a01 in Israel","volume":"25","author":"Frishberg","year":"2005","journal-title":"Am J Nephrol"},{"key":"10.1016\/j.ando.2008.12.007_bib59","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1089\/thy.2007.0228","article-title":"Clear cells detection in nodular thyroid disease is not always indicative of neoplasia: description of the first case of thyroid involvement in multisystem triglyceride storage disease","volume":"18","author":"Benelli","year":"2008","journal-title":"Thyroid"},{"key":"10.1016\/j.ando.2008.12.007_bib60","doi-asserted-by":"crossref","unstructured":"Mu\u00f1oz-Torres M, Varsavsky M, Alonso G, Lactose intolerance revealed by severe resistance to treatment with levothyroxine. Thyroid. 2006; 16:1171-3. Benelli E, Fiore E, Giustarini E, Romani R, Pennisi E, Pinchera A, Giani C.","DOI":"10.1089\/thy.2006.16.1171"},{"key":"10.1016\/j.ando.2008.12.007_bib61","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1086\/431313","article-title":"Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene","volume":"77","author":"Schwartz","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ando.2008.12.007_bib62","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1210\/jc.2007-2719","article-title":"Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8","volume":"93","author":"W\u00e9meau","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib63","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1046\/j.1365-2265.1996.00856.x","article-title":"Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion","volume":"45","author":"Isotani","year":"1996","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ando.2008.12.007_bib64","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0960-8966(95)00020-8","article-title":"The influence of Coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre Syndrome and hypoparathyroidism","volume":"6","author":"Papadimitriou","year":"1996","journal-title":"Neuromuscul Disord."},{"key":"10.1016\/j.ando.2008.12.007_bib65","first-page":"125","article-title":"Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid","volume":"83","author":"Tengan","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib66","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1111\/j.1464-5491.2006.01988.x","article-title":"Reduced insulin secretion in normoglycaemic patients with beta-thalassaemia major","volume":"23","author":"Angelopoulos","year":"2006","journal-title":"Diabet Med"},{"key":"10.1016\/j.ando.2008.12.007_bib67","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/S0022-3476(97)70111-2","article-title":"Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation","volume":"131","author":"Tyni","year":"1997","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib68","first-page":"445","article-title":"[A case of Wilson's disease associated with hypoparathyroidism and amenorrhea]","volume":"95","author":"Okada","year":"1998","journal-title":"Nippon Shokakibyo Gakkai Zasshi"},{"key":"10.1016\/j.ando.2008.12.007_bib69","first-page":"283","article-title":"Fabry's disease and hypoparathyroidism","volume":"153","author":"Misery","year":"2002","journal-title":"Ann Med Interne (Paris)"},{"key":"10.1016\/j.ando.2008.12.007_bib70","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.ando.2007.04.002","article-title":"X-linked adrenoleukodystrophy","volume":"68","author":"Aubourg","year":"2007","journal-title":"Ann Endocrinol (Paris)"},{"key":"10.1016\/j.ando.2008.12.007_bib71","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1023\/A:1005347826664","article-title":"Primary adrenal insufficiency in a child with a mitochondrial DNA deletion","volume":"21","author":"Bruno","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib72","first-page":"3063","article-title":"Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively","volume":"82","author":"Nicolino","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib73","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1210\/jc.2004-0980","article-title":"Hypogonadism in hereditary hemochromatosis","volume":"90","author":"McDermott","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib74","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.jhep.2005.06.024","article-title":"Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene","volume":"43","author":"Koyama","year":"2005","journal-title":"J Hepatol"},{"key":"10.1016\/j.ando.2008.12.007_bib75","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1056\/NEJM198104233041702","article-title":"Hypergonadotropic hypogonadism in female patients with galactosemia","volume":"304","author":"Kaufman","year":"1981","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2008.12.007_bib76","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1007\/s10545-006-0382-0","article-title":"Classical galactosaemia revisited","volume":"29","author":"Bosch","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ando.2008.12.007_bib77","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1046\/j.1365-2605.1997.00066.x","article-title":"Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study","volume":"20","author":"Assies","year":"1997","journal-title":"Int J Androl"},{"key":"10.1016\/j.ando.2008.12.007_bib78","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.jocn.2006.04.008","article-title":"Congenital disorder of glycosylation type\u00a01a: three siblings with a mild neurological phenotype","volume":"14","author":"Coman","year":"2007","journal-title":"J Clin Neurosci"},{"key":"10.1016\/j.ando.2008.12.007_bib79","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1111\/j.1651-2227.1995.tb13720.x","article-title":"Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome","volume":"84","author":"Kristiansson","year":"1995","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.ando.2008.12.007_bib80","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1203\/00006450-199504000-00003","article-title":"Endocrinology of the carbohydrate-deficient glycoprotein syndrome type\u00a01 from birth through adolescence","volume":"37","author":"de Zegher","year":"1995","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ando.2008.12.007_bib81","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1136\/pgmj.71.835.297","article-title":"Hypopituitarism in primary haemochromatosis; recovery after iron depletion","volume":"71","author":"Gama","year":"1995","journal-title":"Postgrad Med J"},{"key":"10.1016\/j.ando.2008.12.007_bib82","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1515\/JPEM.2000.13.3.325","article-title":"Multiple endocrine abnormalities in a child with Blackfan-Diamond anemia and hemochromatosis. Significant improvement of growth velocity and predicted adult height following growth hormone treatment despite liver damage","volume":"13","author":"Lanes","year":"2000","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.1016\/j.ando.2008.12.007_bib83","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/BF00444957","article-title":"Evidence of polyglandular involvement in Niemann-Pick disease type\u00a0B","volume":"146","author":"Strisciuglio","year":"1987","journal-title":"Eur J Pediatr"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426608002679?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426608002679?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T22:43:19Z","timestamp":1757716999000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003426608002679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":83,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["S0003426608002679"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2008.12.007","relation":{},"ISSN":["0003-4266"],"issn-type":[{"type":"print","value":"0003-4266"}],"subject":[],"published":{"date-parts":[[2009,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hypoglyc\u00e9mies et manifestations endocriniennes des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme chez l\u2019adulte","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2008.12.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}