Research Article
P de Lonlay, J C Fournet, J Rahier, M S Gross-Morand, F Poggi-Travert, V Foussier, J P Bonnefont, M C Brusset, F Brunelle, J J Robert, C Nihoul-Fékété, J M Saudubray, C Junien
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The Journal of clinical endocrinology and metabolism | 2012 |
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Orphanet Journal of Rare Diseases | 2011 |
Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the -Cell Sulfonylurea Receptor SUR1
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Diabetes | 2011 |
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The Journal of clinical endocrinology and metabolism | 2011 |
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Acta Pharmacologica Sinica | 2011 |
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Pediatric Diabetes | 2011 |
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia
SE Flanagan, RR Kapoor, VV Smith, K Hussain, S Ellard |
Frontiers in Endocrinology | 2011 |
Fetal and Neonatal Physiology
LH Johnson, VK Bhutani |
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RJ Martin, AA Fanaroff, MC Walsh |
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C Saint-Martin, JB Arnoux, P Lonlay, C Bellanné-Chantelot |
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Diagnostic accuracy of [18F]-fluoro-l-dihydroxyphenylalanine positron emission tomography scan for persistent congenital hyperinsulinism in Japan: [18F]DOPA PET for Asian congenital hyperinsulinism
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The Journal of clinical endocrinology and metabolism | 2011 |
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Nature clinical practice. Endocrinology & metabolism | 2009 |
Impact of Sur1 gene inactivation on the morphology of mouse pancreatic endocrine tissue
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Cell and Tissue Research | 2009 |
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Human Mutation | 2009 |
Novel Use of Somatostatin Receptor Scintigraphy in Localization of Focal Congenital Hyperinsulinism: Promising but Fallible
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PET and PET/CT in Pediatric Gastrointestinal Tract Oncology
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Hypoglycemia in Neonates and Infants
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The Journal of clinical endocrinology and metabolism | 2008 |
Genomic Imprinting
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European Journal of Nuclear Medicine and Molecular Imaging | 2007 |
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Pediatric and Developmental Pathology | 2007 |
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MA Sperling |
The Journal of Pediatrics | 2007 |
Identification of two Novel Frameshift Mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy
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An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism
K Hussain, SE Flanagan, VV Smith, M Ashworth, M Day, A Pierro, S Ellard |
Diabetes | 2007 |
The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children
MJ Ribeiro, N Boddaert, C Bellanné-Chantelot, S Bourgeois, V Valayannopoulos, T Delzescaux, F Jaubert, C Nihoul-Fékété, F Brunelle, PD Lonlay |
European Journal of Nuclear Medicine and Molecular Imaging | 2007 |
Clinical features and morphological characterization of 10 patients with noninsulinoma pancreatogenous hypoglycaemia syndrome (NIPHS)
JG Won, HS Tseng, AH Yang, KT Tang, TS Jap, CH Lee, HD Lin, N Burcus, G Pittenger, A Vinik |
Clinical Endocrinology | 2006 |
Proposal for a Standardized Protocol for <sup>18</sup>F-DOPA-PET (PET/CT) in Congenital Hyperinsulinism
K Mohnike, O Blankenstein, HT Christesen, JD Lonlay, K Hussain, KP Koopmans, H Minn, W Mohnike, A Mutair, T Otonkoski, J Rahier, M Ribeiro, E Schoenle, CN Fékété |
Hormone Research | 2006 |
Mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
AL Gloyn, J Siddiqui, S Ellard |
Human Mutation | 2006 |
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel
I Flechtner, PD Lonlay, M Polak |
Diabetes & Metabolism | 2006 |
Pediatric Endocrinology: Obesity, Diabetes Mellitus, Insulin Resistance, and Hypoglycemia
M Haller, J Silverstein, A Rosenbloom |
Pediatric Endocrinology: Obesity, Diabetes Mellitus, Insulin Resistance, and Hypoglycemia | 2006 |
Hypoglycemia in Newborns and Infants
BH Dekelbab, MA Sperling |
Advances in Pediatrics | 2006 |
Pediatric Surgery
PS Puligandla, JM Laberge |
Pediatric Surgery | 2006 |
Diagnosis and management of congenital hyperinsulinism: a case report
B Bakker, W Oostdijk |
European Journal of Endocrinology | 2006 |
Diagnóstico diferencial de la hipoglucemia en el niño
MV Pérez, JP Siguero |
Endocrinología y Nutrición | 2006 |
Recent advances in hyperinsulinemic hypoglycemia of infancy
B Dekelbab, M Sperling |
Acta paediatrica (Oslo, Norway : 1992) | 2006 |
Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases
N Blau, J Leonard, GF Hoffmann, JT Clarke |
2006 | |
Pediatric PET Imaging
M Charron |
2006 | |
The Diagnosis of Ectopic Focal Hyperinsulinism of Infancy with [18F]-Dopa Positron Emission Tomography
K Hussain, M Seppänen, K Näntö-Salonen, NS Adzick, CA Stanley, P Thornton, H Minn |
The Journal of clinical endocrinology and metabolism | 2006 |
Pancreatic regeneration after near-total pancreatectomy in children with nesidioblastosis
T Berrocal, AÁ Luque, I Pinilla, L Lassaletta |
Pediatric Radiology | 2005 |
Management of Genetic Syndromes
R Weksberg, C Shuman |
Management of Genetic Syndromes | 2005 |
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels
K Hussain, KE Cosgrove |
Pediatric Diabetes | 2005 |
Persistent Hyperinsulinemic Hypoglycemia in 15 Adults With Diffuse Nesidioblastosis
M Anlauf, D Wieben, A Perren, B Sipos, P Komminoth, A Raffel, ML Kruse, C Fottner, WT Knoefel, H M??nig, PU Heitz, G Kl??ppel |
The American Journal of Surgical Pathology | 2005 |
Beckwith-Wiedemann syndrome
R Weksberg, C Shuman, AC Smith |
American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2005 |
Congenital hyperinsulinism
K Hussain |
Seminars in Fetal and Neonatal Medicine | 2005 |
Disorders of Carbohydrate Metabolism
CA Stanley, EK Pallotto |
Avery s Diseases of the Newborn | 2005 |
Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia
KJ Lindley, MJ Dunne |
Early Human Development | 2005 |
Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism
K Hussain, J Bryan, HT Christesen, K Brusgaard, L Aguilar-Bryan |
Diabetes | 2005 |
Pediatric Endocrinology
PS Thornton |
Pediatric Endocrinology | 2005 |
L'hyperinsulinisme congénital du nouveau-né et du nourrisson
I Giurgea, MJ Ribeiro, N Boddaert, G Touati, JJ Robert, JM Saudubray, F Jaubert, C Bellanné-Chantelot, F Brunelle, C Nihoul-Fékété, P Lonlay |
Archives de Pédiatrie | 2005 |
Hyperinsulinisme persistant du nouveau-né et du nourrisson : traitement chirurgical des lésions pancréatiques focales dans 60 cas
C Crétolle, P Lonlay, F Sauvat, F Brunelle, J Rahier, JM Saudubray, C Nihoul-Fékété |
Archives de Pédiatrie | 2005 |
Effects of Hypoglycemia on Developmental Outcome in Children With Congenital Hyperinsulinism
L Steinkrauss, TH Lipman, CD Hendell, M Gerdes, PS Thornton, CA Stanley |
Journal of Pediatric Nursing | 2005 |
Noninvasive Diagnosis of Focal Hyperinsulinism of Infancy With [18F]-DOPA Positron Emission Tomography
T Otonkoski, K Nanto-Salonen, M Seppanen, R Veijola, H Huopio, K Hussain, P Tapanainen, O Eskola, R Parkkola, K Ekstrom, Y Guiot, J Rahier, M Laakso, R Rintala, P Nuutila, H Minn |
Diabetes | 2005 |
Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme
N Boddaert, M Ribeiro, G Touati, K Mention, V Valayanopoulos, C Nihoul-Fékété, F Brunelle, P de Lonlay |
médecine/sciences | 2005 |
Hyperinsulinaemic Hypoglycaemia in Infancy and Childhood - Resolving the Enigma
K Hussain, A Aynsley-Green |
Journal of Pediatric Endocrinology and Metabolism | 2004 |
Causes and therapy of hyperinsulinism in infancy
KE Cosgrove, RM Shepherd, EM Fernandez, A Natarajan, MJ Dunne |
Current Opinion in Endocrinology & Diabetes | 2004 |
Causes and therapy of hyperinsulinism in infancy:
KE Cosgrove, RM Shepherd, EM Fernandez, A Natarajan, MJ Dunne |
Current Opinion in Endocrinology & Diabetes | 2004 |
Normal pregnancy in a woman with nesidioblastosis treated with somatostatin analog octreotide
C Boulanger, D Vezzosi, A Bennet, F Lorenzini, J Fauvel, P Caron |
Journal of Endocrinological Investigation | 2004 |
Hyperinsulinemic hypoglycemia in children
P Lonlay |
Annales d'Endocrinologie | 2004 |
Neonatal hypoglycaemia: aetiologies
P Lonlay, I Giurgea, G Touati, JM Saudubray |
Seminars in Neonatology | 2004 |
Differential diagnosis and management of neonatal hypoglycemia
MA Sperling, RK Menon |
Pediatric Clinics of North America | 2004 |
The surgical management of congenital hyperinsulinemic hypoglycemia in infancy
CN Fékété, P Lonlay, F Jaubert, J Rahier, F Brunelle, JM Saudubray |
Journal of Pediatric Surgery | 2004 |
Hyperinsulinism in Infancy: From Basic Science to Clinical Disease
MJ Dunne, KE Cosgrove, RM Shepherd, A Aynsley-Green, KJ Lindley |
Physiological reviews | 2004 |
Nesidioblastosis: An Old Term and a New Understanding
K Kaczirek, B Niederle |
World Journal of Surgery | 2004 |
Congenital Hyperinsulinism: Intraoperative Biopsy Interpretation Can Direct the Extent of Pancreatectomy
M Suchi, PS Thornton, NS Adzick, C MacMullen, A Ganguly, CA Stanley, ED Ruchelli |
The American Journal of Surgical Pathology | 2004 |
Genetics of Congenital Hyperinsulinism
JC Fournet, C Junien |
Endocrine Pathology | 2004 |
Focal and Diffuse Forms of Congenital Hyperinsulinism: The Keys for Differential Diagnosis
C Sempoux, Y Guiot, F Jaubert, J Rahier |
Endocrine Pathology | 2004 |
Hyperinsulinism in infancy: understanding the pathophysiology
K Hussain, A Aynsley-Green |
The International Journal of Biochemistry & Cell Biology | 2003 |
Persistent hyperinsulinemic hypoglycemia of infancy
MM Cohen |
American Journal of Medical Genetics | 2003 |
Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population
F Reimann, H Huopio, M Dabrowski, P Proks, FM Gribble, M Laakso, T Otonkoski, FM Ashcroft |
Diabetologia | 2003 |
Surgery of persistent hyperinsulinaemic hypoglycaemia
KJ Lindley, L Spitz |
Seminars in Neonatology | 2003 |
Persistent hyperinsulinemic hypoglycemia in infants
LA Markham |
Newborn and Infant Nursing Reviews | 2003 |
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma
Christine Sempoux, Yves Guiot, Karin Dahan, Pierre Moulin, Martine Stevens, Virginie Lambot, Pascale de Lonlay, Jean-Christophe Fournet, Claudine Junien, Francis Jaubert, Claire Nihoul-Fekete, Jean-Marie Saudubray, Jacques Rahier |
Diabetes | 2003 |
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor
Paul S Thornton, Courtney MacMullen, Arupa Ganguly, Eduardo Ruchelli, Linda Steinkrauss, Ana Crane, Lydia Aguilar-Bryan, Charles A Stanley |
Diabetes | 2003 |
Facial appearance in persistent hyperinsulinemic hypoglycemia
P Lonlay, V Cormier-Daire, J Amiel, G Touati, A Goldenberg, JC Fournet, F Brunelle, C Nihoul-F�k�t�, J Rahier, C Junien, JJ Robert, JM Saudubray |
American Journal of Medical Genetics | 2002 |
Oral β-Hydroxybutyrate Supplementation in Two Patients with Hyperinsulinemic Hypoglycemia: Monitoring of β-Hydroxybutyrate Levels in Blood and Cerebrospinal Fluid, and in the Brain by In Vivo Magnetic Resonance Spectroscopy
B Plecko, S Stoeckler-Ipsiroglu, E Schober, G Harrer, V Mlynarik, S Gruber, E Moser, D Moeslinger, H Silgoner, O Ipsiroglu |
Pediatric Research | 2002 |
Persistent hyperinsulinaemic hypoglycaemia
P Lonlay, G Touati, JJ Robert, JM Saudubray |
Seminars in Neonatology | 2002 |
Imaging and intervention in the gastrointestinal tract in children
RD Kaye, RB Towbin |
Gastroenterology Clinics of North America | 2002 |
Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000
C Crétolle, CN Fékété, D Jan, MC Nassogne, JM Saudubray, F Brunelle, J Rahier |
Journal of Pediatric Surgery | 2002 |
K ATP channels and insulin secretion disorders
H Huopio, SL Shyng, T Otonkoski, CG Nichols |
American journal of physiology. Endocrinology and metabolism | 2002 |
Insights into Neonatal Hyperinsulinism
A Kelly, C Alter, P Thornton |
The Endocrinologist | 2001 |
Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism
JC Fournet, C Mayaud, P Lonlay, MS Gross-Morand, V Verkarre, M Castanet, M Devillers, J Rahier, F Brunelle, JJ Robert, C Nihoul-Fékété, JM Saudubray, C Junien |
The American Journal of Pathology | 2001 |
Case 39-2001
RC Cabot, RE Scully, EJ Mark, WF McNeely, JA Shepard, SH Ebeling, SM Ellender, CC Peters, A Sadeghi-Nejad, FM Graeme-Cook |
New England Journal of Medicine | 2001 |
Insights into Neonatal Hyperinsulinism:
A Kelly, C Alter, P Thornton |
The Endocrinologist | 2001 |
The Parathyroids
SJ Marx |
The Parathyroids | 2001 |
Molecular Basis of Pancreas Development and Function
JF Habener, MA Hussain |
2001 | |
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
H Huopio, F Reimann, R Ashfield, J Komulainen, HL Lenko, J Rahier, I Vauhkonen, J Kere, M Laakso, F Ashcroft, T Otonkoski |
Journal of Clinical Investigation | 2000 |
Familial hyperinsulinism and pancreatic β-cell ATP-sensitive potassium channels
N Sharma, A Crane, G Gonzalez, J Bryan, L Aguilar-Bryan |
Kidney International | 2000 |
Persistent Hyperinsulinemic Hypoglycemia of Infancy: Long-Term Outcome Following Subtotal Pancreatectomy
P Mahachoklertwattana, C Suprasonğsin, S Teeraratkul, C Preeyasombat |
Journal of Pediatric Endocrinology and Metabolism | 2000 |
Management of hyperinsulinism in infancy and childhood
K Hussain, A Aynsley-Green |
Annals of Medicine | 2000 |
Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism
H Kentrup, J Altmüller, S Karhausen, ΒP Hauffa, R Pfaffle, G Heimann |
International Journal on Disability and Human Development | 2000 |
Practical management of hyperinsulinism in infancy
A Aynsley-Green, K Hussain, J Hall, JM Saudubray, C Nihoul-Fékété, PD Lonlay-Debeney, F Brunelle, T Otonkoski, P Thornton, KJ Lindley |
Archives of disease in childhood. Fetal and neonatal edition | 2000 |
Genetics of neonatal hyperinsulinism
B Glaser, P Thornton, T Otonkoski, C Junien |
Archives of disease in childhood. Fetal and neonatal edition | 2000 |
Channelopathies
C Fahlke |
Channelopathies | 2000 |
Hyperinsulinism of the newborn
B Glaser |
Seminars in Perinatology | 2000 |
Hypoglycemia in Beckwith-Wiedemann syndrome
MR DeBaun, AA King, N White |
Seminars in Perinatology | 2000 |
Patologia molecular do receptor de sulfoniluréia (SUR1)
AF Reis, G Velho |
Arquivos brasileiros de endocrinologia e metabologia | 2000 |
Histologic Findings in Persistent Hyperinsulinemic Hypoglycemia of Infancy: Australian Experience
MM Jack, RM Walker, MJ Thomsett, AM Cotterill, JR Bell |
Pediatric and Developmental Pathology | 2000 |
Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
JM Saudubray, PD Lonlay, G Touati, D Martin, MC Nassogne, P Castelnau, C Sevin, C Laborde, C Baussan, M Brivet, A Vassault, D Rabier, JP Bonnefont, P Kamoun |
Journal of Inherited Metabolic Disease | 2000 |
HYPOGLYCEMIA IN INFANTS AND CHILDREN
AN Lteif, WF Schwenk |
Endocrinology & Metabolism Clinics of North America | 1999 |
Focal and diffuse beta cell changes in persistent hyperinsulinemic hypoglycemia of infancy
G Klöppel, A Reinecke-Lüthge, F Koschoreck |
Endocrine Pathology | 1999 |
Mechanisms of in utero overgrowth
AJ D'Ercole |
Acta Paediatrica | 1999 |
GENETIC MUTATIONS AS A CAUSE OF HYPERINSULINEMIC HYPOGLYCEMIA IN CHILDREN
PM Thomas |
Endocrinology & Metabolism Clinics of North America | 1999 |
HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
MA Sperling, RK Menon |
Endocrinology & Metabolism Clinics of North America | 1999 |
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism
B Glaser, J Furth, CA Stanley, L Baker, PS Thornton, H Landau, MA Permutt |
Human Mutation | 1999 |
Congenital hyperinsulinism: Molecular basis of a heterogeneous disease
T Meissner, B Beinbrech, E Mayatepek |
Human Mutation | 1999 |
Neonatal Hyperinsulinism
B Glaser, H Landau, MA Permutt |
Trends in Endocrinology & Metabolism | 1999 |
Clinical Features of 52 Neonates with Hyperinsulinism
P Lonlay-Debeney, F Poggi-Travert, JC Fournet, C Sempoux, CD Vici, F Brunelle, G Touati, J Rahier, C Junien, C Nihoul-Fékété, JJ Robert, JM Saudubray |
New England Journal of Medicine | 1999 |
Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels*
L Aguilar-Bryan, J Bryan |
Endocrine reviews | 1999 |
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
V Verkarre, JC Fournet, P Lonlay, MS Gross-Morand, M Devillers, J Rahier, F Brunelle, JJ Robert, C Nihoul-Fékété, JM Saudubray, C Junien |
Journal of Clinical Investigation | 1998 |
Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role
Rahier, Sempoux, Fournet, Poggis, Brunelle, Nihoul-Fekete, Saudubray, Jaubert |
Histopathology | 1998 |
Persistent Hyperinsulinemic Hypoglycemia of Infancy: Long Term Results
C Dacou-Voutetakis, F Psychou, M Maniati-Christidis |
Journal of Pediatric Endocrinology and Metabolism | 1998 |
Ions and Genes in Persistent Hyperinsulinaemic Hypoglycaemia in Infancy: A Commentary on the Implications for Tailoring Treatment to Disease Pathogenesis
A Aynsley-Green, MJ Dunne, RF James, KJ Lindley |
Journal of Pediatric Endocrinology and Metabolism | 1998 |
Clinical and molecular heterogeneity of familial hyperinsulinism
B Glaser, PS Thornton, K Herold, CA Stanley |
The Journal of Pediatrics | 1998 |
Hyperinsulinism: molecular aetiology of focal disease
F Ryan, D Devaney, C Joyce, A Nestorowicz, MA Permutt, B Glaser, DE Barton, PS Thornton |
Archives of disease in childhood | 1998 |
Hypoglycémie hyperinsulinémique persistante du nouveau-né et du nourrisson
P Lonlay-Debeney, JC Fournet, D Martin, F Poggi, CD Vicci, M Spada, G Touati, J Rahier, F Brunelle, C Junien, JJ Robert, C Nihoul-Fékété, JM Saudubray |
Archives de Pédiatrie | 1998 |
Neonatal Hyperinsulinemic Hypoglycemia: Heterogeneity of the Syndrome and Keys for Differential Diagnosis1
C Sempoux, Y Guiot, A Lefevre, C Nihoul-Fékété, F Jaubert, JM Saudubray, J Rahier |
The Journal of clinical endocrinology and metabolism | 1998 |
Endocrine Pathology
RV Lloyd |
Endocrine Pathology | 1990 |